Assay ID Gene Symbol Gene Symbol Alias Allele Nomenclature Polymorphism Amino Acid Change Phenotype NCBI SNP Reference hCV SNP Type Gene Name NCBI Gene Reference Context Sequence Location on NCBI Assembly NCBI Assembly Build Cytogenetic Band Chromosome Minor Allele Frequency Caucasian Minor Allele Frequency African American Minor Allele Frequency Japanese Minor Allele Frequency Chinese Species C__25614338_30 TYMS TS|TMS|HST422|MGC88736|OK/SW-cl.29 C/G Q100 PharmGKB:PA359 rs59755869 hCV25614338 Mis-sense Mutation thymidylate synthetase NM_001071 CTTCCAGGGATCCACAAATGCTAAA[C/G]AGCTGTCTTCCAAGGGAGTGAAAAT 662164 NCBI Build 37.1 Human "18p11.32c,18p11.32" 18 0.01 0 0 0 Homo sapiens C__27482094_60 TYMS TS|TMS|HST422|MGC88736|OK/SW-cl.29 A/G E127 PharmGKB:PA359 rs3786362 hCV27482094 Silent Mutation thymidylate synthetase NM_001071 ACAGCCTGGGATTCTCCACCAGAGA[A/G]GAAGGGGACTTGGGCCCAGTTTATG 662247 NCBI Build 37.1 Human "18p11.32c,18p11.32" 18 0 0 0.1 0.21 Homo sapiens C____786091_10 TYMS TS|TMS|HST422|MGC88736|OK/SW-cl.29 T/G V157 PharmGKB:PA359 rs596909 hCV786091 Mis-sense Mutation thymidylate synthetase NM_001071 AATTCTACAGATTATTCAGGACAGG[T/G]AGTTGACCAACTGCAAAGAGTGATT 669087 NCBI Build 37.1 Human "18p11.32c,18p11.32" 18 0 0 0 0 Homo sapiens C__27829559_20 GPX4 MCSP|PHGPx|snGPx|snPHGPx C/T || rs8178966 hCV27829559 UTR 5||UTR 5 glutathione peroxidase 4 (phospholipid hydroperoxidase) NM_001039847|NM_001039848|NM_002085 GAGGGCGTGGCCGTGGGAAAGGAGG[C/T]GCGGAAAGCCGACGCGCGTCCATTG 1103971 NCBI Build 37.1 Human "19p13.3,19p13.3i" 19 0.01 0.06 0 0 Homo sapiens C__32043186_10 GPX4 MCSP|PHGPx|snGPx|snPHGPx A/G N2||N2 rs8178967 hCV32043186 Mis-sense Mutation||Mis-sense Mutation glutathione peroxidase 4 (phospholipid hydroperoxidase) NM_001039847|NM_001039848|NM_002085 CTGGCTCCCAGCCCCGCCGCGATGA[A/G]CCTCGGCCGCCTTTGCCGCCTACTG 1104047 NCBI Build 37.1 Human "19p13.3i,19p13.3" 19 0 0.04 0 0 Homo sapiens C__34407614_10 GPX4 MCSP|PHGPx|snGPx|snPHGPx C/T V88|V125|V88 rs11555179 hCV34407614 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation glutathione peroxidase 4 (phospholipid hydroperoxidase) NM_001039847|NM_001039848|NM_002085 TACACTCAGCTCGTCGACCTGCACG[C/T]CCGATACGCTGAGTGTGGTTTGCGG 1105448 NCBI Build 37.1 Human "19p13.3i,19p13.3" 19 0 0 0 0 Homo sapiens C___7495709_10 RALBP1 RIP1|RLIP1|RLIP76 A/G PharmGKB:PA34199 rs3322 hCV7495709 UTR 3 ralA binding protein 1 NM_006788 GGCCTTCTCACTGGGTTGGTCAAAG[A/G]TAGTCACCTTGGCCTGGTGCATCCA 9536691 NCBI Build 37.1 Human "18p11.22b,18p11.22" 18 0.12 0 0 0 Homo sapiens C___8124737_20 RALBP1 RIP1|RLIP1|RLIP76 C/G PharmGKB:PA34199 rs12680 hCV8124737 UTR 3 ralA binding protein 1 NM_006788 ACAAGCCCATGCTGCTGCAGAGGGA[C/G]CCTGTGTTTGCAAAACCCAGTGGAC 9537835 NCBI Build 37.1 Human "18p11.22b,18p11.22" 18 0.05 0.1 0.03 0.02 Homo sapiens C__33904619_10 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma A/G ||| PharmGKB:PA281 rs17029007 hCV33904619 UTR 5|||UTR 5 peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 CTGGGGCGCTTGGGTCGGCCTCGAG[A/G]ACACCGGAGAGGGGCGCCACGCCGC 12329483 NCBI Build 37.1 Human "3p25.2,3p25.2b" 3 0 0.02 0.15 0.08 Homo sapiens C___1129864_10 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma C/G |A12|| PharmGKB:PA281 rs1801282 hCV1129864 Intron|Mis-sense Mutation|Intron|Intron peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 AACTCTGGGAGATTCTCCTATTGAC[C/G]CAGAAAGCGATTCCTTCACTGATAC 12393125 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0.18 0.02 0.03 0.01 Homo sapiens C__26856791_20 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma C/G A12|A40|A12|A12 PharmGKB:PA281 rs1805192 hCV26856791 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 GGTTGACACAGAGATGCCATTCTGG[C/G]CCACCAACTTTGGGATCAGCTCCGT 12421238 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0 0 0 0 Homo sapiens C___8756581_20 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma A/C Q85|Q113|Q85|Q85 PharmGKB:PA281 rs1800571 hCV8756581 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 GCAATCAAAGTGGAGCCTGCATCTC[A/C]ACCTTATTATTCTGAGAAGACTCAG 12422848 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0 0 0 0 Homo sapiens C__30634035_10 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma C/T F247|F275|F247|F247 PharmGKB:PA281 rs4135352 hCV30634035 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 TTTCCCTGTTTTATTTGCAGCCATT[C/T]GTTATCTATGACATGAATTCCTTAA 12458208 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0 0.01 0 0 Homo sapiens C__27541581_20 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma A/G M290|M318|M290|M290 PharmGKB:PA281 rs72551362 hCV27541581 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 CTTTCAGGGCTGCCAGTTTCGCTCC[A/G]TGGAGGCTGTGCAGGAGATCACAGA 12458335 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0 0 0 0 Homo sapiens C__27859270_10 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma A/T L360|L388|L360|L360 PharmGKB:PA281 rs72551363 hCV27859270 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 TTCTAAAGAGCCTGCGAAAGCCTTT[A/T]GGTGACTTTATGGAGCCCAAGTTTG 12458547 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0 0 0 0 Homo sapiens C__33904747_10 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma -/G ||| PharmGKB:PA281 hCV33904747 ||| peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 AGTTTGCTGTGAAGTTCAATGCACT[-/G]GGAATTAGATGACAGCGACTTGGCA 12458598 NCBI Build 37.1 Human "3p25.2,3p25.2b" 3 0 0 0 0 Homo sapiens C__33904767_10 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma C/T C397|C425|C397|C397 PharmGKB:PA281 rs72551364 hCV33904767 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 GTTTTCCATATGTGCTTCCCCAGAC[C/T]GCCCAGGTTTGCTGAATGTGAAGCC 12475399 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0 0 0 0 Homo sapiens C__11922961_30 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma C/T H449|H477|H449|H449 PharmGKB:PA281 rs3856806 hCV11922961 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 ACCTCAGACAGATTGTCACGGAACA[C/T]GTGCAGCTACTGCAGGTGATCAAGA 12475557 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0.18 0.05 0.13 0.28 Homo sapiens C__26856819_20 PPARG GLM1|CIMT1|NR1C3|PPARG1|PPARG2|PPARgamma C/T L453|L481|L453|L453 PharmGKB:PA281 rs1805151 hCV26856819 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor gamma NM_005037|NM_015869|NM_138711|NM_138712 GATTGTCACGGAACACGTGCAGCTA[C/T]TGCAGGTGATCAAGAAGACGGAGAC 12475567 NCBI Build 37.1 Human "3p25.2b,3p25.2" 3 0 0 0 0 Homo sapiens C__27850220_20 ASNA1 GET3|ARSA1|TRC40|ARSA-I|MGC3821 C/T F15 rs57065607 hCV27850220 Silent Mutation "arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)" NM_004317 GGTGGGGGGTTGAGGCAGAGGAGTT[C/T]GAAGATGCTCCTGATGTGGAGCCGC 12848364 NCBI Build 37.1 Human "19p13.2a,19p13.2" 19 0 0.01 0 0 Homo sapiens C__26601549_20 ASNA1 GET3|ARSA1|TRC40|ARSA-I|MGC3821 A/C T93 rs1802252 hCV26601549 Mis-sense Mutation "arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)" NM_004317 CAGAAGTTCTCAAAGGTGCCTACCA[A/C]GGTCAAAGGCTATGACAACCTCTTT 12849441 NCBI Build 37.1 Human "19p13.2a,19p13.2" 19 0 0 0 0 Homo sapiens C__26601550_10 ASNA1 GET3|ARSA1|TRC40|ARSA-I|MGC3821 G/T F94 rs1802253 hCV26601550 Mis-sense Mutation "arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)" NM_004317 GAAGTTCTCAAAGGTGCCTACCAAG[G/T]TCAAAGGCTATGACAACCTCTTTGC 12849443 NCBI Build 37.1 Human "19p13.2a,19p13.2" 19 0 0 0 0 Homo sapiens C___8728382_30 ASNA1 GET3|ARSA1|TRC40|ARSA-I|MGC3821 A/G K290 rs1802249 hCV8728382 Silent Mutation "arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)" NM_004317 TCCCCGACCCCGAGAAGCCCTGCAA[A/G]ATGTGTGAGGCCCGTCACAAGATCC 12858361 NCBI Build 37.1 Human "19p13.2a,19p13.2" 19 0 0 0 0 Homo sapiens C__34816139_10 CYP2R1 MGC4663 "CYP2R1*2,c.296T>C" A/G P99 rs61495246 hCV34816139 Mis-sense Mutation "cytochrome P450, family 2, subfamily R, polypeptide 1" NM_024514 TGCAAAAATTTCGCTTTGATGAACA[A/G]GGCATTCCTTTACTACATCATAGCC 14907393 NCBI Build 37.1 Human "11p15.2b,11p15.2" 11 0 0.01 0 0 Homo sapiens C__25986462_10 ABCC13 PRED6|C21orf73 A/T rs57228841 hCV25986462 "ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene" TCCACCAGCACCCCGCCCCAGGCGC[A/T]CTGGCTAGGACTGGAAGGCAAGGAC 15646190 NCBI Build 37.1 Human "21q11.2c,21q11.2" 21 0.07 0 0 0 Homo sapiens C__25989417_10 ABCC13 PRED6|C21orf73 C/T rs61744467 hCV25989417 "ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene" TCAAAGTGTTTGCTGATATTTTGTC[C/T]TTCACTAGCCCACTCATAATGAAGT 15660844 NCBI Build 37.1 Human "21q11.2c,21q11.2" 21 0 0 0 0 Homo sapiens C__25988560_20 ABCC13 PRED6|C21orf73 C/T rs17274058 hCV25988560 "ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene" ATGCTCACCTCAGCAAAAGTTAAGA[C/T]AGCTGTAAATGGACTGATCTACAAA 15664040 NCBI Build 37.1 Human "21q11.2c,21q11.2" 21 0.05 0.02 0 0.01 Homo sapiens C__16013276_20 ABCC13 PRED6|C21orf73 A/G rs2403768 hCV16013276 "ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene" ATTAACTTGATGTCAGCAACTCATG[A/G]ACTTGACAGCAAACCTCAATCTCCT 15671835 NCBI Build 37.1 Human "21q11.2c,21q11.2" 21 0 0.08 0.13 0.14 Homo sapiens C__16123459_20 ABCC13 PRED6|C21orf73 A/G rs2822558 hCV16123459 "ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene" ATGTCAGCAACTCATGGACTTGACA[A/G]CAAACCTCAATCTCCTCTGGTCTGC 15671844 NCBI Build 37.1 Human "21q11.2c,21q11.2" 21 0.19 0.04 0.01 0.02 Homo sapiens C__25955198_20 ABCC13 PRED6|C21orf73 A/G rs60664051 hCV25955198 "ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene" TGCCCCTTTTCAAATCCTAATGGCC[A/G]TATATCTCCTTTGGCAAGAGCTGGG 15671892 NCBI Build 37.1 Human "21q11.2c,21q11.2" 21 0.01 0 0 0 Homo sapiens C__30634260_10 CYP4F8 CPF8|CYPIVF8 A/G rs4808326 hCV30634260 Intron "cytochrome P450, family 4, subfamily F, polypeptide 8" NM_007253 GGGAGGGGCACTGCCCAAGACTGGG[A/G]TGGCTCCAGGGAGCTGGCCCTGGTG 15726147 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.06 0.07 0.02 0.06 Homo sapiens C__25636997_20 CYP4F8 CPF8|CYPIVF8 C/T V107 rs59092606 hCV25636997 Silent Mutation "cytochrome P450, family 4, subfamily F, polypeptide 8" NM_007253 TCAACTTGTGCCACCCTGACATCGT[C/T]CGATCTGTCATCAATACCTCAGGTA 15728933 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0.01 0 0 Homo sapiens C__15871221_70 CYP4F8 CPF8|CYPIVF8 A/T F125 rs2072600 hCV15871221 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 8" NM_007253 ATTACAGACAAGGACATAGTCTTCT[A/T]CAAGACCCTGAAGCCCTGGCTGGGT 15730331 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C__30633970_10 CYP4F8 CPF8|CYPIVF8 C/T X412 rs4646532 hCV30633970 Nonsense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 8" NM_007253 CCAGGACGTGGTGCTCCCAGACAGC[C/T]GAGTCATCCCCAAAGGTGCCCTCCA 15739230 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C__11457484_50 CYP4F8 CPF8|CYPIVF8 A/C P447 rs2056822 hCV11457484 Silent Mutation "cytochrome P450, family 4, subfamily F, polypeptide 8" NM_007253 TCTATGACCCCTTCCGCTTCGACCC[A/C]GAAAACGCCCAGAAGAGGTCACCTA 15739597 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.22 0.32 0.29 0.23 Homo sapiens C__25616793_10 CYP4F3 CPF3|CYP4F|LTB4H A/G H47|| rs61734305 hCV25616793 Mis-sense Mutation|| "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 TATACCTTCTATGACAACTGCTGCC[A/G]CCTCCGGTGTTTCCCGCAACCCCCG 15752365 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C__25616785_10 CYP4F3 CPF3|CYP4F|LTB4H A/G S70|| rs61734303 hCV25616785 Silent Mutation|| "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 GTCTTTCTCTCCAGATTCACAGCTC[A/G]GAGGAAGGTCTCCTATACACACAAA 15756540 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C__25616772_10 CYP4F3 CPF3|CYP4F|LTB4H C/G Q96|| rs34923393 hCV25616772 Mis-sense Mutation|| "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 GCTGCTGGTGGGTGGGGCCCTGGCA[C/G]GCAATCGTCCGCATCTTCCACCCCA 15756618 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C__25616900_10 CYP4F3 CPF3|CYP4F|LTB4H A/G C163|| rs61352304 hCV25616900 Mis-sense Mutation|| "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 TTCCATTTCAACATCCTGAAGCCCT[A/G]TATGAAGATTTTCAATGAGAGTGTG 15758097 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.01 0 0 0.01 Homo sapiens C___1827058_10 CYP4F3 CPF3|CYP4F|LTB4H A/G L203|| rs1053037 hCV1827058 Silent Mutation|| "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 TCAGCCTCATGACCTTGGACAGTCT[A/G]CAGAAATGTGTCTTCAGCTTTGACA 15760053 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.23 0.06 0.02 0.07 Homo sapiens C___7496795_10 CYP4F3 CPF3|CYP4F|LTB4H A/G P348|| rs1805041 hCV7496795 Silent Mutation|| "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 TCCTGTACCACCTTGCAAAGCACCC[A/G]GAATACCAGGAGCGCTGTCGGCAGG 15763691 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.29 0.17 0.13 0.16 Homo sapiens C___7496796_10 CYP4F3 CPF3|CYP4F|LTB4H A/G V358|| rs4646904 hCV7496796 Silent Mutation|| "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 ACCAGGAGCGCTGTCGGCAGGAGGT[A/G]CAAGAGCTTCTGAAGGACCGTGAGC 15763721 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.33 0.35 0.33 0.31 Homo sapiens C__33508731_30 CYP4F3 CPF3|CYP4F|LTB4H -/C || hCV33508731 || "cytochrome P450, family 4, subfamily F, polypeptide 3" NM_000896|NM_001199208|NM_001199209 GGGACGACCTGGCCCAGCTGCCCTT[-/C]CCTGACCATGTGCATTAAGGAGAGC 15769098 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C__27848206_20 CYP4F12 F22329_1|UNQ568/PRO1129 A/G rs7252926 hCV27848206 Intron "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 TGGGACAAGCTGCTCCCGACAGAAG[A/G]TACCAGGCTGGGGGTGGCAGGGCTG 15783946 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C__25762298_30 CYP4F12 F22329_1|UNQ568/PRO1129 C/T T16 rs16995378 hCV25762298 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 TGGCTGGGCCTCAGACCGGTGGCAA[C/T]GTCCCCATGGCTACTCCTGCTGCTG 15784386 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.02 0.11 0 0 Homo sapiens C__26602446_20 CYP4F12 F22329_1|UNQ568/PRO1129 A/G N76 rs609636 hCV26602446 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 CACTCCTACAGAGGAGGGCTTGAAG[A/G]ACTCGACCCAGATGTCGGCCACCTA 15789098 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.02 0.09 0 0 Homo sapiens C__22272773_10 CYP4F12 F22329_1|UNQ568/PRO1129 A/G I90 rs609290 hCV22272773 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 GGCCACCTATTCCCAGGGCTTTACG[A/G]TATGGCTGGGTCCCATCATCCCCTT 15789140 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.02 0.09 0 0 Homo sapiens C__29454134_10 CYP4F12 F22329_1|UNQ568/PRO1129 C/T H264 rs58642948 hCV29454134 Silent Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 TCCACAGGGCCTGCCGCCTGGTGCA[C/T]GACTTCACAGACGCTGTCATCCGGG 15794447 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0.03 0 0 Homo sapiens C__29454135_20 CYP4F12 F22329_1|UNQ568/PRO1129 C/G L270 rs57578760 hCV29454135 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 CCTGGTGCATGACTTCACAGACGCT[C/G]TCATCCGGGAGCGGCGTCGCACCCT 15794463 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0.03 0 0 Homo sapiens C__25629935_10 CYP4F12 F22329_1|UNQ568/PRO1129 A/G V406 rs59302543 hCV25629935 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 CATCTCCCGATGCTGCACCCAGGAC[A/G]TTGTTCTCCCAGATGGCCGAGTCAT 15806846 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0.02 0 0 Homo sapiens C__25629925_10 CYP4F12 F22329_1|UNQ568/PRO1129 A/G S467 rs61391486 hCV25629925 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 ACAGTCCCCACTCCCGCCTGCAGGA[A/G]CTGCATCGGGCAGGCGTTCGCCATG 15807720 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0.02 0 0 Homo sapiens C__25629917_10 CYP4F12 F22329_1|UNQ568/PRO1129 C/T L484 rs61729069 hCV25629917 Silent Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 GGCGGAGATGAAAGTGGTCCTGGCG[C/T]TGATGCTGCTGCACTTCCGGTTCCT 15807770 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0 0 0 0 Homo sapiens C___2265723_50 CYP4F12 F22329_1|UNQ568/PRO1129 C/T L504 rs593421 hCV2265723 Silent Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 CACTGAGCCCCGCAGGAAGCTGGAA[C/T]TGATCATGCGCGCCGAGGGCGGGCT 15807830 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.27 0.44 0.02 0 Homo sapiens C___2265724_30 CYP4F12 F22329_1|UNQ568/PRO1129 A/G S522 rs593818 hCV2265724 Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 12" NM_023944 GCTGCGGGTGGAGCCCCTGAATGTA[A/G]GCTTGCAGTGACTTTCTGACCCATC 15807884 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.48 0.29 0.31 0.28 Homo sapiens C__16179493_40 CYP4F2 CPF2 C/T rs2108622 hCV16179493 "cytochrome P450, family 4, subfamily F, polypeptide 2" NM_001082 CCCCGCACCTCAGGGTCCGGCCACA[C/T]AGCTGGGTTGTGATGGGTTCCGAAA 15990431 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.33 0.07 0.31 0.3 Homo sapiens C__15853367_10 CYP4F2 CPF2 A/G rs2074900 hCV15853367 "cytochrome P450, family 4, subfamily F, polypeptide 2" NM_001082 CCTGGTATTCTGGGTGCTTTGCAAG[A/G]TGGTACAGGACCCAGGAGAGACCAC 15996820 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.29 0.27 0.2 0.17 Homo sapiens C___2583815_20 CYP4F2 CPF2 A/C rs3093153 hCV2583815 "cytochrome P450, family 4, subfamily F, polypeptide 2" NM_001082 CTCAAACATATCCAAACAGGCACTA[A/C]CCTCTGAGGCCAGGAGCTGCCACTT 16001215 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.05 0 0 0 Homo sapiens C__30634065_10 CYP4F2 CPF2 A/G N112 rs8110714 hCV30634065 Silent Mutation "cytochrome P450, family 4, subfamily F, polypeptide 2" NM_001082 AGCTGTTCCAGATGGTACCTGAGGC[A/G]TTGATGACAGACCGGATGATGTCGG 16006323 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.01 0.09 0 0.03 Homo sapiens C__25988669_40 CYP4F2 CPF2 A/G rs3093114 hCV25988669 "cytochrome P450, family 4, subfamily F, polypeptide 2" NM_001082 AGACCTTAAAGCCCTGGGGGTAGGT[A/G]GCCACCAGCTGAGTCAGAACTCTCA 16006413 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.22 0.14 0.09 0.09 Homo sapiens C__25990272_30 CYP4F2 CPF2 C/T rs3093106 hCV25990272 "cytochrome P450, family 4, subfamily F, polypeptide 2" NM_001082 GGTGTCCCCAAAACCAGTTCCGTCT[C/T]GGGGGTTGTGGGAAACACCGAAGGC 16008257 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.21 0.3 0.09 0.13 Homo sapiens C___7494699_10 CYP4F11 CYPIVF11 A/G | rs1060467 hCV7494699 UTR 3|UTR 3 "cytochrome P450, family 4, subfamily F, polypeptide 11" NM_001128932|NM_021187 CTACAGAGGTGGGTGGGTGGGTAGG[A/G]CAGTCACTGTGAGTTCGCACCCAGG 16024538 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.35 0.29 0.24 0.17 Homo sapiens C___7494690_40 CYP4F11 CYPIVF11 C/G T485|T485 rs1064796 hCV7494690 Silent Mutation|Silent Mutation "cytochrome P450, family 4, subfamily F, polypeptide 11" NM_001128932|NM_021187 TCGGCAGGATGCGGAAGTGCAGCAG[C/G]GTGAGCGCCAGGACCACCTTCATCT 16024662 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.24 0.16 0.49 0.41 Homo sapiens C___3060347_60 CYP4F11 CYPIVF11 C/T N446|N446 rs1060463 hCV3060347 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily F, polypeptide 11" NM_001128932|NM_021187 GACCTCTCCTTGATGTTCTCTTGGT[C/T]GAAACGGAAGGGGTCGTAGACCTGC 16025176 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.47 0.49 0.41 0.37 Homo sapiens C__11518298_60 CYP4F11 CYPIVF11 A/G | rs3765070 hCV11518298 | "cytochrome P450, family 4, subfamily F, polypeptide 11" NM_001128932|NM_021187 CTGAGGCACTGGTGATAGGCCGGAT[A/G]ATGTCAGGGTGGCATAAAATGAGGA 16040292 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.48 0.46 0.4 0.33 Homo sapiens C__16191711_10 CYP4F11 CYPIVF11 C/T | rs2305801 hCV16191711 | "cytochrome P450, family 4, subfamily F, polypeptide 11" NM_001128932|NM_021187 GGACGCGGGCCAGGAGCCAGGAGCC[C/T]CCAACCAGCAGCAGAAGCAGCCACG 16045141 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.19 0.42 0 0.01 Homo sapiens C__11512876_20 CYP4F11 CYPIVF11 A/G | rs2305800 hCV11512876 | "cytochrome P450, family 4, subfamily F, polypeptide 11" NM_001128932|NM_021187 CCCAGGAAGCTCCAAGGACAGTGGA[A/G]AGGGGCAAGGATGGGCAGTGCTGGA 16045294 NCBI Build 37.1 Human "19p13.12a,19p13.12" 19 0.32 0.21 0.09 0.07 Homo sapiens C__25614464_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T I83|I83|I83|I83|I83 PharmGKB:PA244 rs61731711 hCV25614464 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 AGGCCTTGGGATTTTTGCTGTGGAT[C/T]GTCTGCTGGGCAGACCTCTTCTACT 16103656 NCBI Build 37.1 Human "16p13.11,16p13.11a" 16 0 0 0 0 Homo sapiens C__30634106_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T F92|F92|F92|F92|F92 PharmGKB:PA244 rs8187844 hCV30634106 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GTCTGCTGGGCAGACCTCTTCTACT[C/T]TTTCTGGGAAAGAAGTCGGGGCATA 16103682 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25614463_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G P104|P104|P104|P104|P104 PharmGKB:PA244 rs61731710 hCV25614463 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GAAGTCGGGGCATATTCCTGGCCCC[A/G]GTGTTTCTGGTCAGCCCAACTCTCT 16103719 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__30634107_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G Q230|Q230|Q230|Q230|Q230 PharmGKB:PA244 rs8187848 hCV30634107 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TGTCTTGGCCCCAGGTTGATTGTCC[A/G]GGGCTACCGCCAGCCCCTGGAGGGC 16130340 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__30634108_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T L236|L236|L236|L236|L236 PharmGKB:PA244 rs8187849 hCV30634108 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GATTGTCCGGGGCTACCGCCAGCCC[C/T]TGGAGGGCAGTGACCTCTGGTCCTT 16130357 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25473744_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G P272|P272|P272|P272|P272 PharmGKB:PA244 rs45560437 hCV25473744 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCACCTCCTTGTGTTCCAGGCAGCC[A/G]GTGAAGGTTGTGTACTCCTCCAAGG 16138313 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.08 0.01 0 0 Homo sapiens C__29818012_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T L349|L349|L349|L349|L349 PharmGKB:PA244 rs8187851 hCV29818012 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCTCTTTGCTCCTTTGCAGGTTGCT[C/T]ATCAAGTTCGTGAATGACACGAAGG 16139699 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0.01 Homo sapiens C___1003676_1_ ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T N354|N354|N354|N354|N354 PharmGKB:PA244 rs35587 hCV1003676 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GCAGGTTGCTCATCAAGTTCGTGAA[C/T]GACACGAAGGCCCCAGACTGGCAGG 16139714 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.29 0.48 0.47 0.41 Homo sapiens C__29619439_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 G/T S433|S433|S433|S433|S433 PharmGKB:PA244 rs60782127 hCV29619439 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 ACCTCATGTCTGTGGACGCTCAGAG[G/T]TTCATGGACTTGGCCACGTACATTA 16142079 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.01 0 0 0 Homo sapiens C__34257260_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 -/C |||| PharmGKB:PA244 hCV34257260 Frame Shift InDel|Frame Shift InDel|Frame Shift InDel|Frame Shift InDel|Frame Shift InDel "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TATGCCTGGGAGCTGGCATTCAAGG[-/C]ACAAGGTGCTGGCCATCAGGCAGGA 16150052 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C___1003660_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T L562|L562|L562|L562|L562 PharmGKB:PA244 rs35605 hCV1003660 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 CTGGGCGTTCTGCTTGCAGGTGGCC[C/T]TGTGCACATTTGCCGTCTACGTGAC 16162019 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.16 0.11 0.23 0.13 Homo sapiens C__25614349_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T Y568|Y568|Y568|Y568|Y568 PharmGKB:PA244 rs8187858 hCV25614349 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TGGCCTTGTGCACATTTGCCGTCTA[C/T]GTGACCATTGACGAGAACAACATCC 16162039 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.12 0.05 0 0 Homo sapiens C__30634103_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T D637|D637|D637|D637|D637 PharmGKB:PA244 rs8187859 hCV30634103 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GCATCGAGCGACGGCCTGTCAAAGA[C/T]GGTGTGTGTGTGTTCAGTCCTGGCT 16165585 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25614385_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G Q723||Q723||Q723 PharmGKB:PA244 rs4148356 hCV25614385 Mis-sense Mutation|Intron|Mis-sense Mutation|Intron|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GCCTGGATTCAGAATGATTCTCTCC[A/G]AGAAAACATCCTTTTTGGATGTCAG 16177275 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0.11 0.07 Homo sapiens C__15853243_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T G885|G826|G829|G770|G885 PharmGKB:PA244 rs16967004 hCV15853243 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCTCTCTTCTGCCAGGGGTCACGGG[C/T]GTCAGCGGTCCAGGGAAGGAAGCAA 16196494 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25614424_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G A989|A930|A933|A874|A989 PharmGKB:PA244 rs35934123 hCV25614424 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TTTTCATGTGTAACCATGTGTCCGC[A/G]CTGGCTTCCAACTATTGGCTCAGCC 16205327 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25614425_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/G S1047|S988|S991|S932|S1047 PharmGKB:PA244 rs13337489 hCV25614425 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 ATCGGGGGGATCTTGGCTTCCCGCT[C/G]TCTGCACGTGGACCTGCTGCACAGC 16208683 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.08 0 0 Homo sapiens C__30634104_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G P1150|P1091|P1094|P1035|P1150 PharmGKB:PA244 rs4148377 hCV30634104 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GCCTCGAGTCGGTCAGCCGCTCCCC[A/G]GTCTATTCCCATTTCAACGAGACCT 16215891 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25614437_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T A1260|A1201|A1204|A1145|A1260 PharmGKB:PA244 rs9933640 hCV25614437 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 CTGAAATGGAAACCAACATCGTGGC[C/T]GTGGAGAGGCTCAAGGAGTATTCAG 16219729 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.07 0 0 Homo sapiens C___3188834_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G S1334|S1275|S1278|S1219|S1334 PharmGKB:PA244 rs2230671 hCV3188834 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TGGGGCGGACGGGAGCTGGGAAGTC[A/G]TCCCTGACCCTGGGCTTATTTCGGA 16228242 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.27 0.09 0.18 0.07 Homo sapiens C__29332720_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T M1401|M1342|M1345|M1286|M1401 PharmGKB:PA244 rs8057331 hCV29332720 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 CAGTACTCGGATGAAGAAGTCTGGA[C/T]GTCCCTGGAGCTGGCCCACCTGAAG 16230411 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25614450_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T A1406|A1347|A1350|A1291|A1406 PharmGKB:PA244 rs34526519 hCV25614450 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 AAGTCTGGACGTCCCTGGAGCTGGC[C/T]CACCTGAAGGACTTCGTGTCAGCCC 16230427 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.03 0 0 Homo sapiens C__25614451_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T I1484|I1425|I1428|I1369| PharmGKB:PA244 rs35148086 hCV25614451 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Intron "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCGAGGACTGCACCGTCCTCACCAT[C/T]GCCCACCGGCTCAACACCATCATGG 16232380 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.06 0 0 Homo sapiens C__34257357_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 -/G |||| PharmGKB:PA244 rs72547523 hCV34257357 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 CAAGTGGTTTCCTGGTGCTTCCCAC[-/G]GGAGGAGTTTTGGCAGCCAGACTTC 16235448 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C___8934057_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T |||| PharmGKB:PA244 rs3743527 hCV8934057 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 GGGCCTGGAGAAAATCATTTTCTCC[C/T]CTTGGCAGTGTCCCAGGGCCCTGGA 16235681 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.17 0.15 0.41 0.48 Homo sapiens C___3188829_30 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/T |||| PharmGKB:PA244 rs212090 hCV3188829 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 AGAACAATCAATGCTGTTATTACTG[A/T]TCCCACCATGATTGATGTGGGGTAA 16236004 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.46 0.19 0.24 0.12 Homo sapiens C__30634105_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 A/G |||| PharmGKB:PA244 rs4148380 hCV30634105 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 AGTTACTGATGCTCTTCCAGGACAC[A/G]AAAAGAACCCATCTTTGAATATCAA 16236431 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.06 0.06 0.05 0.05 Homo sapiens C__30412940_10 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 G/T |||| PharmGKB:PA244 rs8056298 hCV30412940 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 TCTCAAAACTTGAACTTCTTGGGAA[G/T]AGAAGTGTTGGGCTGAGAAGTAACA 16236523 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.12 0 0 Homo sapiens C___1003625_20 ABCC1 MRP|ABCC|GS-X|MRP1|ABC29|DKFZp781G125|DKFZp686N04233 C/T |||| PharmGKB:PA244 rs212091 hCV1003625 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 1" NM_004996|NM_019862|NM_019898|NM_019899|NM_019900 AGCAGCATCTTTTAAAGCCTGTTCT[C/T]TAAGGTGTCTCGTTAGAGCCCAAAG 16236650 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.15 0.16 0.27 0.25 Homo sapiens C__34257363_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |C1459 rs72547524 hCV34257363 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GCACAGTCCATCACGGAGCGCAGGC[A/G]GTGGGCAATGAGCAGCACAGTGCAC 16244463 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27859381_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |T1424 rs63750295 hCV27859381 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CACGGCAGCAGTAGCCTCGTCCAGG[A/G]TGAGGATCTGGGTCTTCCGGAGAAG 16244567 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__32385688_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T |K1400 rs63751241 hCV32385688 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GTGGGACGACCATACCTCAGGTCCT[C/T]GCCTCGGTCAGCACACTTGTACTGC 16248495 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27859380_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |X1398 rs66913555 hCV27859380 |Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CGACCATACCTCAGGTCCTCGCCTC[A/G]GTCAGCACACTTGTACTGCAGCTGG 16248501 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__34257366_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/C | rs63750798 hCV34257366 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 TCAGGTCCTCGCCTCGGTCAGCACA[A/C]TTGTACTGCAGCTGGCCGGGCAGGC 16248511 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27859379_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T |N1361 rs58695352 hCV27859379 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 TCGTCCGAGTGCTCCTGCAGCAGGT[C/T]GAGGTTCATCCGCAGAGAGCCAGGG 16248612 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.01 0 0 0 Homo sapiens C__27860865_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/G |R1354 rs63750018 hCV27860865 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 AGGTCGAGGTTCATCCGCAGAGAGC[C/G]AGGGAACAGGATGGGGTCCTGGCGG 16248633 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27859378_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/G |H1347 rs67720869 hCV27859378 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 TGCCCACCCCCTCCACCAGCCTCAC[C/G]TGGGGGATGATGCTGATCCTGGAGC 16248730 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27859377_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T |S1321 rs63749823 hCV27859377 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GGGACCCCGTCGATCCAGATCCCAC[C/T]CTCAGCTGCCTCCTGGAGCCGCAGC 16248810 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27859373_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/C |F1298 rs63751325 hCV27859373 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GACTTCCCTGCCCCGGTCCTGCCAA[A/C]GATGCCCACCTGCCCGGGGTTGGGA 16248879 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25620840_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T | rs58694313 hCV25620840 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 AGAGAACCACTCACCTTCTCTCCTG[C/T]GTGGATCTTGAAGGACACGCCCTGC 16251531 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.09 0 0 Homo sapiens C___3188814_30 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T | rs2238472 hCV3188814 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 AGGTCGGTATCTTAGCCCAAAGTCC[C/T]GGAACTCGATCTGCCCGCCCTGAGG 16251599 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.27 0.07 0.16 0.08 Homo sapiens C__34257378_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |C1221 rs63751215 hCV34257378 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CTGTTCTCTAGGTCTGTCCAGTTGC[A/G]AACAACCCACTGCAGTGTCTGGGTC 16253413 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__28016637_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |M1130 rs63750459 hCV28016637 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CCGGACCACTGTGCTGCCCTGGAAC[A/G]TCTCAGCCATGTGGGAGCAGACAGA 16256967 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27859372_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/G | rs63750987 hCV27859372 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CTCAGCCATGTGGGAGCAGACAGAC[C/G]AGTAGCTGGCTGACTCCAAGCGTCT 16256994 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25620847_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 G/T | rs60707953 hCV25620847 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CTCCGTACCTGAAACCCAGCGTAGA[G/T]GAGAAACAGTGGCAGGATGGCCACA 16259497 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.03 0 0 Homo sapiens C__25471601_40 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G | rs2856585 hCV25471601 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 AGAGGAAGAGTGCGTAGAGGCAGAG[A/G]GGGGTGCCCACGGCACGCAGGTAGG 16263663 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.06 0.12 0.28 0.27 Homo sapiens C__25620747_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |X927X rs61731973 hCV25620747 |Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GGGTGAAGCTGGTGGTTACCCTGCC[A/G]TATTGGATGCTGTCCTTTCCTGCTG 16267147 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25620759_30 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T | rs6416668 hCV25620759 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 TGTCTGGCTTGATCCAGAAGACACA[C/T]GAGGGCCCCCTTCCTCTGCAGAAGC 16271357 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.12 0 0 Homo sapiens C__25472644_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G | rs9924755 hCV25472644 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CCTGGTAGGAACCCATCTCTGCGAT[A/G]GCCCCATTTGCCAGCACTATGATCC 16271409 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.18 0.23 0.06 0.04 Homo sapiens C__25620760_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T | rs7500834 hCV25620760 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CCAAACTTACTGTTCCCTGGAGTAG[C/T]CCACCAGGCCCAATGACCTGGTTGA 16272670 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.12 0 0 Homo sapiens C__27859370_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 G/T |X768 rs66492417 hCV27859370 |Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CCAGCAGGTACACAGCTGCCTTTCT[G/T]TATACAGCCCGGGCCAGGCTCAGCC 16272766 NCBI Build 37.1 Human "16p13.11,16p13.11a" 16 0 0 0 0 Homo sapiens C__27859369_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T |Q765 rs67561842 hCV27859369 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CACAGCTGCCTTTCTGTATACAGCC[C/T]GGGCCAGGCTCAGCCGCTGCTTCTG 16272776 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__32385690_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |X749 rs66616071 hCV32385690 |Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CAAAAAGACCCCCAAACTCTCACCT[A/G]CTCCCCAATTGAAGTGTGGATTCCC 16276271 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25620761_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T | rs59593133 hCV25620761 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 ACCTGCTCCCCAATTGAAGTGTGGA[C/T]TCCCTCAGGGAAGCTGTCCACATCT 16276292 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.01 0.06 0 0 Homo sapiens C__25620773_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/T |V725 rs59757815 hCV25620773 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CTGGCTGCAGGGCACAGGCTTCTAG[A/T]ACTCTCTCCAGCCAGGGTGGGTCCA 16276341 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.01 0.07 0 0 Homo sapiens C__25620776_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |I689 rs61266641 hCV25620776 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GACAGGCTGGGGGTGGCCTCACCTC[A/G]ATGCTCACGAACCCCTCCACCTTTG 16276664 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0.06 0 0 Homo sapiens C__27859368_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |P673 rs67470843 hCV27859368 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 TGACAGCTCCCCAAGGAGGGCGGAC[A/G]GCAGGGAGGACTTCCCTGCCCCCAC 16276713 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__27065556_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |A665 rs4341770 hCV27065556 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CAGCAGGGAGGACTTCCCTGCCCCC[A/G]CTGGACCGACAACAGCCAGCAGACA 16276737 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C___3189036_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 G/T | rs8058694 hCV3189036 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CCTGGGACCAGGCGAAGGTGGCACT[G/T]TGTATGGTGATGCAATCCTTCCCGG 16278863 NCBI Build 37.1 Human "16p13.11,16p13.11a" 16 0.42 0.33 0.15 0.09 Homo sapiens C___3189037_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/G |T630 rs8058696 hCV3189037 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 ACCAGGCGAAGGTGGCACTGTGTAT[C/G]GTGATGCAATCCTTCCCGGCAGCTG 16278869 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.42 0.32 0.15 0.09 Homo sapiens C__25472539_20 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G | rs12931472 hCV25472539 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GCTTCCAGAGGAACTTGAGTCTACG[A/G]CACCAGGGTCAACTTCTTCCAGGCA 16281007 NCBI Build 37.1 Human "16p13.11,16p13.11a" 16 0.44 0.38 0.14 0.09 Homo sapiens C__27859367_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |S568 rs66864705 hCV27859367 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GATGTTGAGAACTGTGAGAGTCACA[A/G]AGGCTTTCTCTGCATTCATAGCATT 16282764 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25620812_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T |I514 rs59157279 hCV25620812 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 AGCTCCTGGCCTCGGATGCCCAGGA[C/T]TCTGTCCAGAAAGGCTCCCTCCCAG 16284116 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.01 0 0 0 Homo sapiens C__34257414_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/G |P455 rs67996820 hCV34257414 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 AGGAGGCTCAGGAAGACAGCGATGG[C/G]AGTGAGGGCGGAGGGCCCCAGGAGC 16286755 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0 0 0 0 Homo sapiens C__25620824_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 A/G |S451 rs57546826 hCV25620824 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 GGAAGACAGCGATGGCAGTGAGGGC[A/G]GAGGGCCCCAGGAGCTGGGGATAGA 16286765 NCBI Build 37.1 Human "16p13.11a,16p13.11" 16 0.01 0 0 0 Homo sapiens C__29454162_10 ABCC6 ARA|PXE|MLP1|MRP6|PXE1|URG7|ABC34|MOATE|EST349056 C/T |V415 rs9940825 hCV29454162 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 6" NM_001079528|NM_001171 CGCTCTCGGTCAGCCGCTGCACGTC[C/T]ACGGACACCAGATTGACCACATCAC 16291971 NCBI Build 37.1 Human "16p13.11,16p13.11a" 16 0.33 0.18 0.14 0.16 Homo sapiens C__30633941_10 AHR bHLHe76 A/G rs7796976 hCV30633941 UTR 5 aryl hydrocarbon receptor NM_001621 CGCAGGCGGGAAGCACCCTGGATTT[A/G]GGAAGTCCCGGGAGCAGCGCGGCGG 17338430 NCBI Build 37.1 Human "7p21.1c,7p21.1" 7 0.18 0.07 0.31 0.32 Homo sapiens C__25650165_20 AHR bHLHe76 C/T N44 rs17779352 hCV25650165 Silent Mutation aryl hydrocarbon receptor NM_001621 CCAAGCGGCATAGAGACCGACTTAA[C/T]ACAGAGTTGGACCGTTTGGCTAGCC 17349626 NCBI Build 37.1 Human "7p21.1c,7p21.1" 7 0.11 0.02 0.02 0.09 Homo sapiens C__25650167_20 AHR bHLHe76 A/C R398 rs61730147 hCV25650167 Silent Mutation aryl hydrocarbon receptor NM_001621 GGAAGGAACAGAGCATTTACGAAAA[A/C]GAAATACGAAGTTGCCTTTTATGTT 17378641 NCBI Build 37.1 Human "7p21.1c,7p21.1" 7 0 0 0 0 Homo sapiens C__11170747_20 AHR bHLHe76 A/G K554 rs2066853 hCV11170747 Mis-sense Mutation aryl hydrocarbon receptor NM_001621 CTAGGCATTGATTTTGAAGACATCA[A/G]ACACATGCAGAATGAAAAATTTTTC 17379110 NCBI Build 37.1 Human "7p21.1c,7p21.1" 7 0.07 0.43 0.45 0.26 Homo sapiens C__25650166_20 AHR bHLHe76 A/G I570 rs4986826 hCV25650166 Mis-sense Mutation aryl hydrocarbon receptor NM_001621 TTTCAGAAATGATTTTTCTGGTGAG[A/G]TTGACTTCAGAGACATTGACTTAAC 17379157 NCBI Build 37.1 Human "7p21.1c,7p21.1" 7 0 0.09 0 0 Homo sapiens C__30633942_10 AHR bHLHe76 A/C rs4987097 hCV30633942 UTR 3 aryl hydrocarbon receptor NM_001621 GTCACAGTAAAAATAAAATACTTTG[A/C]GTTTTGAGCTACTGGATTCTTATTA 17383061 NCBI Build 37.1 Human "7p21.1,7p21.1c" 7 0.05 0.01 0 0 Homo sapiens C___8302428_20 AHR bHLHe76 C/T rs1803080 hCV8302428 UTR 3 aryl hydrocarbon receptor NM_001621 TTTAAACCTTTTATTATAAGTCTTA[C/T]ATAAACCATTTTTGTTACTCTCTTC 17385198 NCBI Build 37.1 Human "7p21.1c,7p21.1" 7 0 0 0 0 Homo sapiens C___8302427_30 AHR bHLHe76 C/T rs1803079 hCV8302427 UTR 3 aryl hydrocarbon receptor NM_001621 TTTAGTGGAAAATAGGCTTTTTAAT[C/T]ATGAATATGATGACAATCAGTTATA 17385270 NCBI Build 37.1 Human "7p21.1c,7p21.1" 7 0 0 0 0 Homo sapiens C__27859383_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G P1543 PharmGKB:PA24395 rs72559713 hCV27859383 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CAGGACGATCACCAGGTCTGCACTC[A/G]GGATGGTGTGCACTCGATGCTGGGC 17414656 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__26261705_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T T1492 PharmGKB:PA24395 rs72559714 hCV26261705 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CTGGTCTTCCTCACGAAGGCCCGGG[C/T]CAGGCAGAACAGCTGCCTCTGTCCC 17415884 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__27860874_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T R1478 PharmGKB:PA24395 rs72559715 hCV27860874 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CTCTGTCCCTGGCTGAAATTCTCCC[C/T]GCCTTCTGTGATGATGGCATCTGAA 17415926 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__27859382_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T N1471 PharmGKB:PA24395 rs72559716 hCV27859382 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CAGCTGCATAGCCAGGAGTAGTTAC[C/T]GAGGCCTCCTGGCAGTGCCTTCACC 17416719 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__27536147_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T T1457 PharmGKB:PA24395 rs72559717 hCV27536147 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GCCTTCACCACCAGCTTCAGCTGGG[C/T]GATTTCCAGGGCCTCCCACAGTGTG 17416761 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C____600644_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G C1420 PharmGKB:PA24395 rs28938469 hCV600644 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GGGTCCTGCAGGATGATGGAGAGGC[A/G]TGAGCGCAGGGTGTGCAGCGGCAGT 17417206 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__32897366_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G F1386 PharmGKB:PA24395 rs72559718 hCV32897366 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CATGCGGAAGAAGGCAAGAGAGAAG[A/G]AGGACTTCCCACTGCCGGTGCGGCC 17417440 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C____600632_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/C S1369 PharmGKB:PA24395 rs757110 hCV600632 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CGTGCTCTGACCTTCTGTCCAGGGG[A/C]GATGAGGGCATTGACGTGCTTCAGC 17418477 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0.32 0.09 0.35 0.27 Homo sapiens C____600648_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G P1352 PharmGKB:PA24395 rs28936370 hCV600648 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CACCGGCTTCAGGGAGCTGTCGTAG[C/G]GCACGCTCAGGTTCTGGATCTGGAT 17418527 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__27860870_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G N1336 PharmGKB:PA24395 rs67767715 hCV27860870 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GGATCTTCCCTTGGTCTGGCCAGTT[C/G]TTTGGGATCAGCGATGGTGCTGGGG 17418574 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__32897362_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G T1285 PharmGKB:PA24395 rs56924677 hCV32897362 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CACTGCCGCTCACCATTAGGGCGTA[A/G]GTAAGGCCCAGGCCCACCAGGCCAG 17419243 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C___9686369_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G L1170 PharmGKB:PA24395 rs1048091 hCV9686369 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TCTGGATGAAGTAGCACACGATGGC[C/G]AGGGGCAAGAGGGCCACGAGGAACA 17426106 NCBI Build 37.1 Human "11p15.1,11p15.1d" 11 0 0 0 0 Homo sapiens C___9686367_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G C1056 PharmGKB:PA24395 rs1799860 hCV9686367 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TGGCATAGACAGTCTGGTCGAGGGT[A/G]CACTCCTTCACAGGCAGAGAGTGAT 17428330 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__29454096_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 T/G M1015 PharmGKB:PA24395 rs72559719 hCV29454096 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TGCTTGAGCAGCTGTGAGAAGACCA[T/G]CAACGACAGGAGCAGGATGCCGGCG 17428554 NCBI Build 37.1 Human "11p15.1,11p15.1d" 11 0 0 0 0 Homo sapiens C__29454095_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 T/A X1014 PharmGKB:PA24395 rs67706538 hCV29454095 Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CTTGAGCAGCTGTGAGAAGACCAGC[T/A]ACGACAGGAGCAGGATGCCGGCGGA 17428556 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__29454094_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G W1013 PharmGKB:PA24395 rs72559720 hCV29454094 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GAGCAGCTGTGAGAAGACCAGCAAC[C/G]ACAGGAGCAGGATGCCGGCGGAGGA 17428559 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__26261699_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G F956 PharmGKB:PA24395 rs72559721 hCV26261699 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GCCATCCCTCGAGGACATGGCACGA[A/G]ATAGGCCCTGGGGTGGCTCTGTGGC 17428954 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__11654180_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G X836 PharmGKB:PA24395 rs72559722 hCV11654180 Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TAGAGGGCTCGGGCCACACTGATTC[A/G]CTGGCGTTGACCACCAGACAGGTTG 17434263 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__29988653_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G T759 PharmGKB:PA24395 rs1801261 hCV29988653 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GGACGCAGTACCTGATATCCAAGTC[A/G]GTCGCTGTCTCCCGCTCTGGGCTGC 17436865 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0.06 0.03 0 0 Homo sapiens C____600653_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/C V716 PharmGKB:PA24395 rs72559723 hCV600653 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TAGAAGGAGCGAGGACTTGCCGCAG[A/C]CCACCTGCCCCACGATCATAGTCAG 17448671 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__32897319_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 -/A Y701I PharmGKB:PA24395 rs72559724 hCV32897319 Frame Shift InDel "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TGGGCCATACCTCGGGGGATACGAA[-/A]TGGTGATGTTGGACAGTGTGGGGAT 17449429 NCBI Build 37.1 Human "11p15.1,11p15.1d" 11 0 0 0 0 Homo sapiens C___9686359_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T PharmGKB:PA24395 rs1799858 hCV9686359 "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CCCGACAATCCTCCCGGGCTGGACG[C/T]TTGCGGTTCACAACCCTGAGGGGCT 17449929 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0.12 0.18 0.22 0.19 Homo sapiens C__32897317_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 -/G PharmGKB:PA24395 rs72559725 hCV32897317 Frame Shift InDel "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TGGTACTTGCTGGCTGGGCCCTGAG[-/G]TGTGGGCTCATGGGGGGCACACTGC 17450144 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__26261692_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G C620 PharmGKB:PA24395 rs58241708 hCV26261692 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TCATGGGGGGCACACTGCTCCTCAC[A/G]GATCTCTGCACTGGACAGGAACTCG 17450177 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0.01 0 0 Homo sapiens C____600654_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G L591 PharmGKB:PA24395 rs72559726 hCV600654 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TAGATCGGACCACACTGGACAGCAG[C/G]AACAGCGGTGTGACCAAGATATGGA 17452405 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C___9071393_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G PharmGKB:PA24395 rs1799857 hCV9071393 "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 AGTCGGCCTCTTTGAAGAAGCTGAC[A/G]TGGCCCACGAAAGTCTGTGGACAGA 17452492 NCBI Build 37.1 Human "11p15.1,11p15.1d" 11 0.43 0.44 0.3 0.32 Homo sapiens C__32312749_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T M560 PharmGKB:PA24395 rs4148619 hCV32312749 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TCTTTGAAGAAGCTGACGTGGCCCA[C/T]GAAAGTCTGTGGACAGAGGCACAAG 17452500 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0.02 0 Homo sapiens C__26261686_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G P508 PharmGKB:PA24395 rs72559727 hCV26261686 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GTTCTCCCAGGCGTACAGCTTCAGC[A/G]GCTTGATGCCGCGGAGCATCTCGTT 17464374 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__26261683_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G R418 PharmGKB:PA24395 rs67254669 hCV26261683 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TTGGTGTCGATGGCAACCAGATTAC[A/G]GATCTGTCCAGCAGTCATTTCTCCC 17470143 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C____600655_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T D406 PharmGKB:PA24395 rs72559728 hCV600655 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GCAGTCATTTCTCCCATGGACAGGT[C/T]GGAGGTGGACAGGTGCATAATTTTA 17470179 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__25636674_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G PharmGKB:PA24395 rs60824529 hCV25636674 "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CAAGTACCTGTATTGCTCCTCTCAA[A/G]TTAATTCCAGTTTCAATGGCCACAT 17474684 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0.09 0 0 Homo sapiens C__25636675_30 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T C356 PharmGKB:PA24395 rs59852838 hCV25636675 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 AAGGAACAGAAGCACAGCTAAGACG[C/T]AGGCATTGGCAAGGAACTCTTGGGA 17474775 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0.01 0 0 0 Homo sapiens C__29454093_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 G/T M312 PharmGKB:PA24395 rs72559729 hCV29454093 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 ATGCACAGTGGCCCGGCGAAGCCCA[G/T]CAGGTCGGCCAAGATGCGGAAAGTG 17482112 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C___8941201_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 G/A A256 PharmGKB:PA24395 rs1048093 hCV8941201 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GTTGGTAGTTGGTGAGGGCCCTCAT[G/A]GCGATGGGCAGCTTCCCGATGGCTC 17483184 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C___8941200_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 G/A V256 PharmGKB:PA24395 rs1048094 hCV8941200 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TTGGTAGTTGGTGAGGGCCCTCATG[G/A]CGATGGGCAGCTTCCCGATGGCTCG 17483185 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__26261678_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G X248 PharmGKB:PA24395 rs72559730 hCV26261678 Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GCGATGGGCAGCTTCCCGATGGCTC[A/G]CAAGTCGATGGGCTTCTTGTGGGCA 17483210 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C___8941199_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G P225 PharmGKB:PA24395 rs1048095 hCV8941199 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CATCCACCAGTAGGTGCCTTTGGAC[A/G]GCAGATTCACGAAGGGCTGCAGGAA 17483278 NCBI Build 37.1 Human "11p15.1,11p15.1d" 11 0 0 0 0 Homo sapiens C___8941194_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G V167 PharmGKB:PA24395 rs1048096 hCV8941194 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 AGCAGCCCTGTGAGGCAGAAGCGTA[C/G]CTGCGAGAAGCCGATGGCGTGGTCC 17485065 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C___8941193_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G L157 PharmGKB:PA24395 rs1048098 hCV8941193 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GAGAAGCCGATGGCGTGGTCCAAGA[A/G]CTTGACAAACTTGATGGTCTTGGTG 17485095 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C____600658_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G Q125 PharmGKB:PA24395 rs60637558 hCV600658 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TGGGGAAGTTGGAAGTCTCGATGTT[C/G]TGATAGTAGACCACGGAGGTGACAG 17491685 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0.01 0 0 0 Homo sapiens C__26261671_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G P116 PharmGKB:PA24395 rs72559731 hCV26261671 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TAGTAGACCACGGAGGTGACAGCAG[C/G]CATGAACGCCATCCCGGCTGGCATG 17491714 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__22272399_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G PharmGKB:PA24395 rs8192695 hCV22272399 "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TGACAGCAGCCATGAACGCCATCCC[A/G]GCTGGCATGTACAGGTGCAGATGGT 17491730 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0.04 0.11 0.01 0.01 Homo sapiens C__30150772_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G V104 PharmGKB:PA24395 rs10400391 hCV30150772 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 ATCCCGGCTGGCATGTACAGGTGCA[C/G]ATGGTGGGATTCGGTCACCCTGAGA 17491750 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__29454092_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/A R77 PharmGKB:PA24395 rs72559732 hCV29454092 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 CAGGACGAAGAGCAGCATGAAGGTC[C/A]GGATCCACCGCAGGTTGTGCCCAGG 17496493 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__32897263_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 AG/CC PharmGKB:PA24395 hCV32897263 "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 AGGACGAAGAGCAGCATGAAGGTC[AG/CC]GATCCACCGCAGGTTGTGCCCAGG 17496493 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C__29454091_10 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/G V77 PharmGKB:PA24395 rs72559733 hCV29454091 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 AGGACGAAGAGCAGCATGAAGGTCA[C/G]GATCCACCGCAGGTTGTGCCCAGGG 17496494 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0 0 0 0 Homo sapiens C____600659_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 C/T Q74 PharmGKB:PA24395 rs72559734 hCV600659 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 GAGCAGCATGAAGGTCAGGATCCAC[C/T]GCAGGTTGTGCCCAGGGAAATGAAG 17496502 NCBI Build 37.1 Human "11p15.1,11p15.1d" 11 0 0 0 0 Homo sapiens C___2991263_20 ABCC8 HI|SUR|HHF1|MRP8|PHHI|SUR1|ABC36|HRINS|TNDM2 A/G PharmGKB:PA24395 rs1048099 hCV2991263 "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" NM_000352 TCAGGATCCACCGCAGGTTGTGCCC[A/G]GGGAAATGAAGCCATGTGCTGTGGT 17496516 NCBI Build 37.1 Human "11p15.1d,11p15.1" 11 0.5 0.33 0.44 0.3 Homo sapiens C__27530743_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*11A,g.-344C>T|NAT1*11B,g.-344C>T|NAT1*11C,g.-344C>T" C/T |||||||| PharmGKB:PA17 rs4986988 hCV27530743 |||||UTR 5||| N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 TGATTCTCCTGCCTACATCAGAAGA[C/T]GTTTATAAGCCTATTTTAAAGGATA 18079213 NCBI Build 37.1 Human "8p22a,8p22" 8 0.01 0 0 0 Homo sapiens C__27540181_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*11A,g.-40A>T|NAT1*11B,g.-40A>T|NAT1*11C,g.-40A>T" A/T |||||||| PharmGKB:PA17 rs4986989 hCV27540181 |||||UTR 5||| N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 TACTCAAATCCAAGTGTAAAAGTAA[A/T]ATGATTTGCTTTCGTTTTGTTTTCC 18079517 NCBI Build 37.1 Human "8p22a,8p22" 8 0.01 0 0 0 Homo sapiens C__27849358_20 NAT1 AAC1|MNAT|NATI|NAT-1 A/T |||||||| PharmGKB:PA17 rs8190857 hCV27849358 |||||UTR 5||| N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 CAAATCCAAGTGTAAAAGTAAAATG[A/T]TTTGCTTTCGTTTTGTTTTCCTTGC 18079521 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0.08 0 0 Homo sapiens C__27530745_20 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*27,g.21T>G" G/T L7|L7|L7|L7|L7|L7|L69|L69|L7 PharmGKB:PA17 rs4986992 hCV27530745 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 GGATCATGGACATTGAAGCATATCT[G/T]GAAAGAATTGGCTATAAGAAGTCTA 18079577 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0.01 0 0 Homo sapiens C__34816040_20 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*19,g.97C>T" C/T X33|X33|X33|X33|X33|X33|X95|X95|X33 PharmGKB:PA17 rs56318881 hCV34816040 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 AACTGACATTCTTCAACACCAGATC[C/T]GAGCTGTTCCCTTTGAGAACCTTAA 18079653 NCBI Build 37.1 Human "8p22,8p22a" 8 0 0 0 0 Homo sapiens C__27529541_20 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*17,g.190C>T" C/T W64|W64|W64|W64|W64|W64|W126|W126|W64 PharmGKB:PA17 rs56379106 hCV27529541 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 TTTTGATCAAGTTGTGAGAAGAAAT[C/T]GGGGTGGATGGTGTCTCCAGGTCAA 18079746 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__32287179_20 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*5,g.350-351GG>CC" GG/CC T117|T117|T117|T117|T117|T117|T179|T179|T117 PharmGKB:PA17 rs72554606 hCV32287179 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 TCCTGCAGGTGACCATTGATGGCA[GG/CC]AACTACATTGTCGATGCTGGGTTT 18079906 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__30633841_10 NAT1 AAC1|MNAT|NATI|NAT-1 C/T V121|V121|V121|V121|V121|V121|V183|V183|V121 PharmGKB:PA17 rs8190858 hCV30633841 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 CCATTGATGGCAGGAACTACATTGT[C/T]GATGCTGGGTTTGGACGCTCATACC 18079919 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__30327694_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*11A,g.445G>A|NAT1*11B,g.445G>A" A/G I149|I149|I149|I149|I149|I149|I211|I211|I149 PharmGKB:PA17 rs4987076 hCV30327694 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 GAAGGATCAGCCTCAGGTGCCTTGT[A/G]TCTTCCGTTTGACGGAAGAGAATGG 18080001 NCBI Build 37.1 Human "8p22a,8p22" 8 0.01 0 0 0 Homo sapiens C__27527915_20 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*11A,g.459G>A|NAT1*11B,g.459G>A|NAT1*11C,g.459G>A" A/G T153|T153|T153|T153|T153|T153|T215|T215|T153 PharmGKB:PA17 rs4986990 hCV27527915 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 AGGTGCCTTGTGTCTTCCGTTTGAC[A/G]GAAGAGAATGGATTCTGGTATCTAG 18080015 NCBI Build 37.1 Human "8p22,8p22a" 8 0.01 0 0 0 Homo sapiens C__32287180_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*5,g.497-499GGG>CCC" CCC/GGG TQ166|TQ166|TQ166|TQ166|TQ166|TQ166|TQ228|TQ228|TQ166 PharmGKB:PA17 rs72554608 hCV32287180 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 CTGGTATCTAGACCAAATCAGAA[CCC/GGG]AACAGTACATTCCAAATGAAGAA 18080053 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__27529440_20 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*15,g.559C>T" C/T X187|X187|X187|X187|X187|X187|X249|X249|X187 PharmGKB:PA17 rs5030839 hCV27529440 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 TGATCTCCTAGAAGACAGCAAATAC[C/T]GAAAAATCTACTCCTTTACTCTTAA 18080115 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C___1204334_50 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*14A,g.560G>A|NAT1*14B,g.560G>A" A/G Q187|Q187|Q187|Q187|Q187|Q187|Q249|Q249|Q187 PharmGKB:PA17 rs4986782 hCV1204334 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 GATCTCCTAGAAGACAGCAAATACC[A/G]AAAAATCTACTCCTTTACTCTTAAG 18080116 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__34816042_20 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*21,g.613A>G" A/G V205|V205|V205|V205|V205|V205|V267|V267|V205 PharmGKB:PA17 rs72554609 hCV34816042 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 TCGAACAATTGAAGATTTTGAGTCT[A/G]TGAATACATACCTGCAGACATCTCC 18080169 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__30633842_10 NAT1 AAC1|MNAT|NATI|NAT-1 C/T I207|I207|I207|I207|I207|I207|I269|I269|I207 PharmGKB:PA17 rs4987195 hCV30633842 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 ATTGAAGATTTTGAGTCTATGAATA[C/T]ATACCTGCAGACATCTCCATCATCT 18080176 NCBI Build 37.1 Human "8p22,8p22a" 8 0 0 0 0 Homo sapiens C__30633843_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*11A,g.640T>G|NAT1*11B,g.640T>G|NAT1*11C,g.640T>G" G/T A214|A214|A214|A214|A214|A214|A276|A276|A214 PharmGKB:PA17 rs4986783 hCV30633843 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 GAATACATACCTGCAGACATCTCCA[G/T]CATCTGTGTTTACTAGTAAATCATT 18080196 NCBI Build 37.1 Human "8p22a,8p22" 8 0.01 0 0 0 Homo sapiens C__30633844_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*22,g.752A>T" A/T V251|V251|V251|V251|V251|V251|V313|V313|V251 PharmGKB:PA17 rs56172717 hCV30633844 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 AGATTCAATTATAAGGACAATACAG[A/T]TCTAATAGAGTTCAAGACTCTGAGT 18080308 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__27530744_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*23,g.777T>C|NAT1*27,g.777T>C" C/T |||||||| PharmGKB:PA17 rs4986991 hCV27530744 |||||||| N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 ATCTAATAGAGTTCAAGACTCTGAG[C/T]GAGGAAGAAATAGAAAAAGTGCTGA 18080333 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0.01 0 0 Homo sapiens C__34816043_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*25,g.787A>G" A/G V263|V263|V263|V263|V263|V263|V325|V325|V263 PharmGKB:PA17 rs72554611 hCV34816043 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 GTTCAAGACTCTGAGTGAGGAAGAA[A/G]TAGAAAAAGTGCTGAAAAATATATT 18080343 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__30633845_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*5,g.884A>G" A/G |||||||| PharmGKB:PA17 rs55793712 hCV30633845 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 TTTTTTACTATTTAGAATAAGGAGT[A/G]AAACAATCTTGTCTATTTGTCATCC 18080440 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__25610301_10 NAT1 AAC1|MNAT|NATI|NAT-1 C/T |||||||| PharmGKB:PA17 rs4986994 hCV25610301 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 ATCCAGCTCACCAGTTATCAACTGA[C/T]GACCTATCATGTATCTTCTGTACCC 18080487 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__32287183_10 NAT1 AAC1|MNAT|NATI|NAT-1 "NAT1*5,g.delta 1105" T/- |||||||| PharmGKB:PA17 rs72554613 hCV32287183 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 N-acetyltransferase 1 (arylamine N-acetyltransferase) NM_000662|NM_001160170|NM_001160171|NM_001160172|NM_001160173|NM_001160174|NM_001160175|NM_001160176|NM_001160179 AATAATAAAAAATGTATTTTAAAGA[T/-]GGCCTGTGGTTATCTTGGAAATTGG 18080661 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__15818662_10 TPMT C/G PharmGKB:PA356 rs2842944 hCV15818662 UTR 3 thiopurine S-methyltransferase NM_000367 CACGTCAAGTTCAACATCAGCGTGG[C/G]CAACAAAGTGAGACCCTGTCTCTAC 18129281 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C_____19567_20 TPMT C/T C240 PharmGKB:PA356 rs1142345 hCV19567 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 TCTCATTTACTTTTCTGTAAGTAGA[C/T]ATAACTTTTCAAAAAGACAGTCAAT 18130918 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0.03 0.08 0.03 0.01 Homo sapiens C__27541393_10 TPMT A/C Q227 PharmGKB:PA356 rs72552736 hCV27541393 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 AAAGACAGTCAATTCCCCAACTTTT[A/C]TGTCGTTCTTCAAAAGCATCAACCT 18130956 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C_____19569_20 TPMT C/T H215 PharmGKB:PA356 rs56161402 hCV19569 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 AAAAGCATCAACCTTCTCAAGACAA[C/T]GTATATTGCATATTTTACCTGAAAC 18130993 NCBI Build 37.1 Human "6p22.3,6p22.3e" 6 0 0 0 0 Homo sapiens C__12091550_20 TPMT C/T PharmGKB:PA356 rs1800584 hCV12091550 Intron thiopurine S-methyltransferase NM_000367 AGACAACGTATATTGCATATTTTAC[C/T]TGAAACAAGAAAGAGTAACATGTTA 18131012 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__25472276_10 TPMT A/G I158 PharmGKB:PA356 rs2842934 hCV25472276 Silent Mutation thiopurine S-methyltransferase NM_000367 CTTACCATTTGCGATCACCTGGATT[A/G]ATGGCAACTAATGCTCCTCTATCCC 18139214 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0.26 0.23 0.3 0.17 Homo sapiens C__30634116_20 TPMT T/C T154 PharmGKB:PA356 rs1800460 hCV30634116 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 TCACCTGGATTGATGGCAACTAATG[T/C]TCCTCTATCCCAAATCATGTCAAAT 18139228 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0.03 0.01 0 0 Homo sapiens C__34275586_10 TPMT C/G R144 PharmGKB:PA356 rs72552737 hCV34275586 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 CTATCCCAAATCATGTCAAATTTGC[C/G]AATATTTGTCCTACCAGAAAGAGAA 18139258 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__34275587_10 TPMT G/T T141 PharmGKB:PA356 rs16880276 hCV34275587 Silent Mutation thiopurine S-methyltransferase NM_000367 AAATCATGTCAAATTTGCCAATATT[G/T]GTCCTACCAGAAAGAGAAAAAACAT 18139265 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__34275589_10 TPMT C/T Y132 PharmGKB:PA356 rs72552738 hCV34275589 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 CCTGGGAAGATCAAAAATACTGCAA[C/T]AGTACAATGAAATGTTCCCCGAAGA 18139920 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__25761596_20 TPMT A/G T113 PharmGKB:PA356 rs17839843 hCV25761596 Silent Mutation thiopurine S-methyltransferase NM_000367 TAAATACTTTGGTTCCAGGAATTTC[A/G]GTGATTGGTTCTTCTGAGTAAGAAA 18143854 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0.03 0 0 0 Homo sapiens C__27536925_50 TPMT A/C X98 PharmGKB:PA356 rs72552739 hCV27536925 Nonsense Mutation thiopurine S-methyltransferase NM_000367 GAAAGATTCTGCTCTGTAAAAAATT[A/C]TTGTATCCCAAGTTCACTGATTTCC 18143901 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__12091552_30 TPMT C/G P80 PharmGKB:PA356 rs1800462 hCV12091552 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 CCAACTACACTGTGTCCCCGGTCTG[C/G]AAACCTGCATAAAATCATACATTTA 18143955 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C_______401_20 TPMT A/G S49 PharmGKB:PA356 rs72552740 hCV401 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 AAGGAAAGTATCTAAATGCTTCTTT[A/G]ATAGCCTGAAGAGGAAAAAAAAAAA 18148141 NCBI Build 37.1 Human "6p22.3,6p22.3e" 6 0 0 0 0 Homo sapiens C__29454163_10 TPMT A/C G33 PharmGKB:PA356 rs72552741 hCV29454163 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 TGAAAAGCAGTCTTGCCGTTCACCC[A/C]CTTGTCTTGCCATTCTTCCAGAGTT 18149262 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__34275608_20 TPMT A/T V28 PharmGKB:PA356 rs72552742 hCV34275608 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 GCCGTTCACCCACTTGTCTTGCCAT[A/T]CTTCCAGAGTTAGTACTTGGTTTTT 18149276 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__34275609_20 TPMT A/G L24 PharmGKB:PA356 rs16880307 hCV34275609 Silent Mutation thiopurine S-methyltransferase NM_000367 TTGTCTTGCCATTCTTCCAGAGTTA[A/G]TACTTGGTTTTTCTGTACCTCAGTA 18149289 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__30178961_20 TPMT C/T V0 PharmGKB:PA356 rs9333569 hCV30178961 Mis-sense Mutation thiopurine S-methyltransferase NM_000367 TCAAGTGAAGTTCTTGTACCATCCA[C/T]AGTTTCAGAGACACCTTTGTCTCAC 18149358 NCBI Build 37.1 Human "6p22.3e,6p22.3" 6 0 0 0 0 Homo sapiens C__34816073_20 NAT2 AAC2|PNAT "NAT2*6D,g.111T>C" C/T F37 PharmGKB:PA18 rs72554615 hCV34816073 Silent Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 AGCACCAGATCCGGGCTGTTCCCTT[C/T]GAGAACCTTAACATGCATTGTGGGC 18257624 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C___8684084_10 NAT2 AAC2|PNAT "NAT2*19,g.190C>T" C/T W64 PharmGKB:PA18 rs1805158 hCV8684084 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 TTTTGATCACATTGTAAGAAGAAAC[C/T]GGGGTGGGTGGTGTCTCCAGGTCAA 18257703 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C____572771_10 NAT2 AAC2|PNAT "NAT2*14A,g.191G>A|NAT2*14B,g.191G>A|NAT2*14C,g.191G>A|NAT2*14D,g.191G>A|NAT2*14E,g.191G>A|NAT2*14F,g.191G>A|NAT2*14G,g.191G>A" A/G Q64 PharmGKB:PA18 rs1801279 hCV572771 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 TTTGATCACATTGTAAGAAGAAACC[A/G]GGGTGGGTGGTGTCTCCAGGTCAAT 18257704 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0.06 0 0 Homo sapiens C___8684085_20 NAT2 AAC2|PNAT "NAT2*12B,g.282C>T|NAT2*13,g.282C>T|NAT2*14B,g.282C>T|NAT2*14D,g.282C>T|NAT2*14G,g.282C>T|NAT2*5G,g.282C>T|NAT2*5J,g.282C>T|NAT2*6A,g.282C>T|NAT2*6C,g.282C>T|NAT2*6D,g.282C>T|NAT2*7B,g.282C>T" C/T Y94 PharmGKB:PA18 rs1041983 hCV8684085 Silent Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 CCACAATGTTAGGAGGGTATTTTTA[C/T]ATCCCTCCAGTTAACAAATACAGCA 18257795 NCBI Build 37.1 Human "8p22a,8p22" 8 0.37 0.49 0.33 0.47 Homo sapiens C___1204093_20 NAT2 AAC2|PNAT "NAT2*14C,g.341T>C|NAT2*14F,g.341T>C|NAT2*5A,g.341T>C|NAT2*5B,g.341T>C|NAT2*5C,g.341T>C|NAT2*5D,g.341T>C|NAT2*5E,g.341T>C|NAT2*5F,g.341T>C|NAT2*5G,g.341T>C|NAT2*5H,g.341T>C|NAT2*5I,g.341T>C|NAT2*5J,g.341T>C" C/T T114 PharmGKB:PA18 rs1801280 hCV1204093 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 GTTCACCTTCTCCTGCAGGTGACCA[C/T]TGACGGCAGGAATTACATTGTCGAT 18257854 NCBI Build 37.1 Human "8p22a,8p22" 8 0.46 0.32 0 0.03 Homo sapiens C__27535831_10 NAT2 AAC2|PNAT "NAT2*12D,g.364G>A" A/G N122 PharmGKB:PA18 rs4986996 hCV27535831 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 CATTGACGGCAGGAATTACATTGTC[A/G]ATGCTGGGTCTGGAAGCTCCTCCCA 18257877 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__25604708_10 NAT2 AAC2|PNAT C/G V135 PharmGKB:PA18 rs12720065 hCV25604708 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 AAGCTCCTCCCAGATGTGGCAGCCT[C/G]TAGAATTAATTTCTGGGAAGGATCA 18257916 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__27535832_20 NAT2 AAC2|PNAT "NAT2*5I,g.411A>T" A/T F137 PharmGKB:PA18 rs4986997 hCV27535832 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 CCCAGATGTGGCAGCCTCTAGAATT[A/T]ATTTCTGGGAAGGATCAGCCTCAGG 18257924 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C__27537324_20 NAT2 AAC2|PNAT "NAT2*17,g.434A>C" A/C P145 PharmGKB:PA18 rs72554616 hCV27537324 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 TTAATTTCTGGGAAGGATCAGCCTC[A/C]GGTGCCTTGCATTTTCTGCTTGACA 18257947 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C___1204092_20 NAT2 AAC2|PNAT "NAT2*11A,g.481C>T|NAT2*11B,g.481C>T|NAT2*12C,g.481C>T|NAT2*14C,g.481C>T|NAT2*5A,g.481C>T|NAT2*5B,g.481C>T|NAT2*5F,g.481C>T|NAT2*5G,g.481C>T|NAT2*5H,g.481C>T|NAT2*5I,g.481C>T|NAT2*6E,g.481C>T" C/T L161 PharmGKB:PA18 rs1799929 hCV1204092 Silent Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 GACAGAAGAGAGAGGAATCTGGTAC[C/T]TGGACCAAATCAGGAGAGAGCAGTA 18257994 NCBI Build 37.1 Human "8p22a,8p22" 8 0.43 0.26 0 0.02 Homo sapiens C___1204091_10 NAT2 AAC2|PNAT "NAT2*14D,g.590G>A|NAT2*5E,g.590G>A|NAT2*5J,g.590G>A|NAT2*6A,g.590G>A|NAT2*6B,g.590G>A|NAT2*6C,g.590G>A|NAT2*6D,g.590G>A|NAT2*6E,g.590G>A" A/G Q197 PharmGKB:PA18 rs1799930 hCV1204091 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 ATATACTTATTTACGCTTGAACCTC[A/G]AACAATTGAAGATTTTGAGTCTATG 18258103 NCBI Build 37.1 Human "8p22a,8p22" 8 0.36 0.38 0.2 0.31 Homo sapiens C__30633898_10 NAT2 AAC2|PNAT "NAT2*5F,g.759C>T" C/T V253 PharmGKB:PA18 rs56011192 hCV30633898 Silent Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 ATTATAAAGACAATACAGATCTGGT[C/T]GAGTTTAAAACTCTCACTGAGGAAG 18258272 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C____572769_20 NAT2 AAC2|PNAT "NAT2*12A,g.803A>G|NAT2*12B,g.803A>G|NAT2*12C,g.803A>G|NAT2*12D,g.803A>G|NAT2*14C,g.803A>G|NAT2*14E,g.803A>G|NAT2*14F,g.803A>G|NAT2*14G,g.803A>G|NAT2*5B,g.803A>G|NAT2*5C,g.803A>G|NAT2*5F,g.803A>G|NAT2*5G,g.803A>G|NAT2*5H,g.803A>G|NAT2*5I,g.803A>G|NAT2*6C,g.803A>G" A/G K268 PharmGKB:PA18 rs1208 hCV572769 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 GAGGAAGAGGTTGAAGAAGTGCTGA[A/G]AAATATATTTAAGATTTCCTTGGGG 18258316 NCBI Build 37.1 Human "8p22a,8p22" 8 0.44 0.35 0 0.03 Homo sapiens C__27541613_10 NAT2 AAC2|PNAT "NAT2*18,g.845A>C" A/C T282 PharmGKB:PA18 rs56054745 hCV27541613 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 TCCTTGGGGAGAAATCTCGTGCCCA[A/C]ACCTGGTGATGGATCCCTTACTATT 18258358 NCBI Build 37.1 Human "8p22a,8p22" 8 0 0 0 0 Homo sapiens C____572770_20 NAT2 AAC2|PNAT "NAT2*7A,g.857G>A|NAT2*7B,g.857G>A" A/G E286 PharmGKB:PA18 rs1799931 hCV572770 Mis-sense Mutation N-acetyltransferase 2 (arylamine N-acetyltransferase) NM_000015 AATCTCGTGCCCAAACCTGGTGATG[A/G]ATCCCTTACTATTTAGAATAAGGAA 18258370 NCBI Build 37.1 Human "8p22a,8p22" 8 0.01 0.02 0.16 0.14 Homo sapiens C__15853281_20 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 C/T I410|I470|I470 rs2230709 hCV15853281 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 AGGCCATAGCTGGTGGTGCTGTCAA[C/T]CAGCTGCAGCGTCTCCTTGTACTTG 19201928 NCBI Build 37.1 Human "1p36.13b,1p36.13" 1 0.14 0.01 0 0 Homo sapiens C__15853280_10 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 A/G || rs2230708 hCV15853280 || "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 GCTGCAGCGTCTCCTTGTACTTGTC[A/G]TCCGGGTAGACGTACACAGACAGTA 19201956 NCBI Build 37.1 Human "1p36.13b,1p36.13" 1 0.21 0.41 0.24 0.27 Homo sapiens C____169533_20 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 A/G || rs2230707 hCV169533 || "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 CCACGGAGTCATCACACTTGCCCCC[A/G]GCCAGGATGGTGAGGCTGGGTGAGG 19202896 NCBI Build 37.1 Human "1p36.13b,1p36.13" 1 0.45 0.43 0.32 0.4 Homo sapiens C____169534_20 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 C/T || rs7550938 hCV169534 || "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 CCCCGGCCAGGATGGTGAGGCTGGG[C/T]GAGGAGCGTGCGTGCTCCAGCCACT 19202917 NCBI Build 37.1 Human "1p36.13,1p36.13b" 1 0.27 0.49 0.24 0.27 Homo sapiens C__25985104_20 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 C/T R306|R366|R366 rs41306567 hCV25985104 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 CGACTGTGCTCCTCCAGCAGCCGCC[C/T]TTTGATCTGCGGCCACAGCGAGTGC 19203951 NCBI Build 37.1 Human "1p36.13,1p36.13b" 1 0.02 0 0.03 0.01 Homo sapiens C__25985082_10 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 C/T P302|P362|P362 rs41310410 hCV25985082 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 CCTCCAGCAGCCGCCCTTTGATCTG[C/T]GGCCACAGCGAGTGCGGCACGTAGA 19203961 NCBI Build 37.1 Human "1p36.13b,1p36.13" 1 0.03 0 0 0 Homo sapiens C__27531774_20 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 A/G || hCV27531774 || "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 CAGCGAGTGCGGCACGTAGAGACGC[A/G]AGCACGCGGAACACTTCTGGCCACC 19203992 NCBI Build 37.1 Human "1p36.13b,1p36.13" 1 0 0 0 0 Homo sapiens C____169539_20 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 C/G A290|A350|A350 rs2230705 hCV169539 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 AGTGCGGCACGTAGAGACGCGAGCA[C/G]GCGGAACACTTCTGGCCACCGTACT 19203997 NCBI Build 37.1 Human "1p36.13b,1p36.13" 1 0.23 0.26 0.5 0.43 Homo sapiens C__25982477_10 ALDH4A1 P5CD|ALDH4|P5CDh|DKFZp779M035|RP11-128M10.1 A/G || rs60427141 hCV25982477 || "aldehyde dehydrogenase 4 family, member A1" NM_001161504|NM_003748|NM_170726 TGGGGGGCAGGCCAGCCTCCCGAAG[A/G]ATGCGGTAGACAGCATAGCTGGCCA 19208316 NCBI Build 37.1 Human "1p36.13b,1p36.13" 1 0 0.07 0 0 Homo sapiens C__25609769_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/T K0|K0 rs61737991 hCV25609769 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 TGCAGTTCTCTGCAGGACCAGGCCA[A/T]GGAGCTCGAAGTCCGGCGGGTCCGA 19552286 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C___2275871_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T X10|X10 rs72547554 hCV2275871 Nonsense Mutation|Nonsense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 GGAGCTCGAAGTCCGGCGGGTCCGA[C/T]AGGCGTTCCTGTCCGGCCGGTCGCG 19552312 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__27531156_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T P27|P27 rs72547555 hCV27531156 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CCTCTGCGGTTTCGGCTGCAGCAGC[C/T]GGAGGCCCTGCGGAGGATGGTGCAG 19552364 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__32808377_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/T D64|D64 rs72547556 hCV32808377 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 GTGTACAGTCAGGAAGTCATTACTG[A/T]CCTTGGGGAAATTGATTTTATGCTT 19554897 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C___2275868_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G X78|X78 rs72547557 hCV2275868 Nonsense Mutation|Nonsense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 TTTATGCTTGAGAATCTTCCTGAAT[A/G]GGTTACTGCTAAACCAGTTAAGAAG 19554939 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__27536971_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 G/T R106|R106 rs72547558 hCV27536971 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CAGCCACAGCCTCTGGGAGTGGTGC[G/T]GATAATCGGAGCTTGGAATTACCCC 19555023 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C___2275866_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T L114|L114 rs72547559 hCV2275866 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CTGATAATCGGAGCTTGGAATTACC[C/T]CTTCGTTCTCACCATTCAGCCACTG 19555047 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C___2275865_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T L121|L121 rs72547560 hCV2275865 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 TACCCCTTCGTTCTCACCATTCAGC[C/T]ACTGATAGGAGCCATCGCTGCAGGT 19555068 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__32808424_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T X177|X177 rs72547561 hCV32808424 Nonsense Mutation|Nonsense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 GGAAACCACGGAGCTCCTGAAGCAG[C/T]GATTTGACCACATTTTCTATACGGG 19559736 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____11781_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/G A185|A185 rs72547563 hCV11781 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CGATTTGACCACATTTTCTATACGG[C/G]AAACACTGCGGTTGGCAAAATTGTC 19559761 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____11782_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G Y214|Y214 rs72547564 hCV11782 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CTTGAACTGGGAGGGAAAAGTCCAT[A/G]TTATATTGATAAAGATTGTGACCTG 19559848 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__27860995_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/G W226|W226 rs72547565 hCV27860995 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 AAGATTGTGACCTGGACATTGTTTG[C/G]AGGTGAGTCTGGCTCTCTGATTTTC 19559885 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____11784_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T C228|C228 rs72547566 hCV11784 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CTGTTCTGGATGTTTTCCCCTCAGA[C/T]GCATAACCTGGGGAAAATACATGAA 19561059 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____11785_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G Y237|Y237 rs72547567 hCV11785 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 ATAACCTGGGGAAAATACATGAATT[A/G]TGGCCAAACCTGCATTGCACCCGAC 19561087 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C___2275858_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G N245|N245 rs72547568 hCV2275858 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 TTGTGGCCAAACCTGCATTGCACCC[A/G]ACTATATTCTCTGTGAAGCATCCCT 19561110 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__27860997_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/G N266|N266 rs72547569 hCV27860997 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 TATGGAAGATTAAGGAAACAGTGAA[C/G]GTTTGTATTAAAAACATCTGATTCC 19561175 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____12339_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/T N279|N279 rs72547570 hCV12339 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 AGAAAATATAAAAGAGTCTCCTGAT[A/T]ATGAAAGGATCATCAATCTTCGTCA 19564476 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____12338_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T S315|S315 rs72547571 hCV12338 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CATTTTGTTTATTTTCTTTTTAGCC[C/T]CAACAGTACTTACCGATGTTGATCC 19566648 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____12337_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/G I328|I328 rs72547572 hCV12337 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 ATGTTGATCCTAAAACCAAGGTGAT[C/G]CAAGAAGAAATTTTTGGACCAATTC 19566689 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C_____12336_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T L365|L365 rs72547573 hCV12336 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 AAGCCTCTGGCTCTTTATGTATTTT[C/T]GCATAACCATAAGGTAAGCTTTAGA 19566799 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__32808493_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G N380|N380 rs72547574 hCV32808493 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 AAACGGATGATTGATGAGACATCCA[A/G]TGGAGGTGTCACAGGCAATGACGTC 19568292 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C__27530845_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G S386|S386 rs72547575 hCV27530845 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 ACATCCAGTGGAGGTGTCACAGGCA[A/G]TGACGTCATTATGCACTTCACGCTC 19568310 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C______9263_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 C/T S419|S419 rs72547576 hCV9263 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CACGGAAAACATAGTTTTGATACTT[C/T]TTCTCATCAGCGTCCCTGTTTATTA 19575082 NCBI Build 37.1 Human "17p11.2,17p11.2d" 17 0 0 0 0 Homo sapiens C__27540272_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 G/T X426|X426 rs72547577 hCV27540272 Nonsense Mutation|Nonsense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 ACTTTTTCTCATCAGCGTCCCTGTT[G/T]ATTAAAAAGTTTAAAGAGAGAAGGT 19575103 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C______9265_20 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/G E447|E447 rs67939114 hCV9265 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 CAGATATCCTCCCAACAGCCAGTCA[A/G]AGGTGGATTGGGGAAAATTTTTTCT 19575165 NCBI Build 37.1 Human "17p11.2,17p11.2d" 17 0 0 0 0 Homo sapiens C___2275846_10 ALDH3A2 SLS|FALDH|ALDH10|FLJ20851|DKFZp686E23276 A/T A482| rs7216 hCV2275846 Silent Mutation|UTR 3 "aldehyde dehydrogenase 3 family, member A2" NM_000382|NM_001031806 GAATCCTTTTTTCCTCTCTCCAGGC[A/T]GAATATTACTGAAGAATGATCCTGT 19578873 NCBI Build 37.1 Human "17p11.2,17p11.2d" 17 0.33 0.43 0.01 0.02 Homo sapiens C__25761206_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/G || rs57555435 hCV25761206 || "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 AAGTCTCGAAGCTCTTCTTGCCATG[A/G]TAGGATCCCATGCCGCTGTTCCCTG 19641744 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0.01 0.15 0.24 Homo sapiens C__32808312_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 -/C G349E|E349G|E349G rs72547578 hCV32808312 Frame Shift InDel|Frame Shift InDel|Frame Shift InDel "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 TGGTTGATGAACTGGATGGCCTCCT[-/C]CCAGGCTGCGCACGCACACGATGGG 19642892 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C___2977322_40 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/G A329|A329|A329 rs2228100 hCV2977322 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 CCGAAGATCTCCTCTTGCATCACCG[C/G]GGACTGGGGGTCCACGTCCGTGAGG 19642952 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0.32 0.47 0.41 0.37 Homo sapiens C__27510697_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/T E309|E309|E309 rs3744692 hCV27510697 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 ACCTATGTAGCGAGTGGCGGCATCC[C/T]CGGTGCCCCCATAAGCCACCTTCTG 19643672 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0.03 0.03 Homo sapiens C__25951530_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/T F305|F305|F305 rs60739355 hCV25951530 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 AGTGGCGGCATCCCCGGTGCCCCCA[A/T]AAGCCACCTTCTGGCCCTCAATCAG 19643684 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0 0 0 Homo sapiens C___2977319_30 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/T P247|P247|P247 rs2072330 hCV2977319 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 TCGAGGGGTCACAGAGGATGTAGTC[A/T]GGGGCCACGCAGGTCTGGCCACTGT 19644472 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0.44 0.09 0.35 0.23 Homo sapiens C__25760817_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/T || rs57633837 hCV25760817 || "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 CAGGGGTCAGGTGCTTGGCAGCAGC[C/T]GTCATGATGATCTTCCCCACCCCCG 19645412 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0.01 0.02 0 0 Homo sapiens C___7443700_60 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/A || rs887241 hCV7443700 || "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 AGCTCCGAGGGCTTGAGGACCACTG[C/A]GTTCCCTGCAGAGCACACCGAGCCA 19645938 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0.24 0.36 0.05 0.06 Homo sapiens C__25609793_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 A/G P86|P86|P86 rs61279095 hCV25609793 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 GCTGAGTCTGGGGCGTCTTCTCCAC[A/G]GGCTCATCCGCGGCCCACTCAGGGA 19646681 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0.01 0 0 Homo sapiens C__25609785_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/T E63|E63|E63 rs59102760 hCV25609785 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 CGATCTCCTCTAGGACGTACACCAC[C/T]TCCTCATAGTAGGCGTTCCATTCAT 19646750 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0.07 0 0 0 Homo sapiens C__27841755_20 ALDH3A1 ALDH3|ALDHIII|MGC10406 C/G Q43|Q43|Q43 rs57485106 hCV27841755 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member A1" NM_000691|NM_001135167|NM_001135168 TCTGCGGCCAGCGCGCCCACCAGCT[C/G]CTGCTCCTGCTCCTGGATCAGGCGC 19648316 NCBI Build 37.1 Human "17p11.2d,17p11.2" 17 0 0.01 0 0 Homo sapiens C__11731859_10 COMT G/C S34|S34|S34| PharmGKB:PA117 rs6270 hCV11731859 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|UTR 5 catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 CTGAGGCACTGGGGCTGGGGCCTGT[G/C]CCTTATCGGCTGGAACGAGTTCATC 19950150 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0 0 0 0 Homo sapiens C__33581550_10 COMT -/A ||| PharmGKB:PA117 hCV33581550 ||| catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 TCCTGCAGCCCATCCACAACCTGCT[-/A]CATGGGTGACACCAAGGAGCAGCGC 19950199 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0 0 0 0 Homo sapiens C___2538747_20 COMT C/T H62|H62|H62|H12 PharmGKB:PA117 rs4633 hCV2538747 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 CCAAGGAGCAGCGCATCCTGAACCA[C/T]GTGCTGCAGCATGCGGAGCCCGGGA 19950235 NCBI Build 37.1 Human "22q11.21,22q11.21c" 22 0.44 0.27 0.35 0.3 Homo sapiens C__11731855_20 COMT G/T S72|S72|S72|S22 PharmGKB:PA117 rs6267 hCV11731855 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 GCTGCAGCATGCGGAGCCCGGGAAC[G/T]CACAGAGCGTGCTGGAGGCCATTGA 19950263 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0 0 0.1 0.01 Homo sapiens C___2255322_10 COMT A/G Q73|Q73|Q73|Q23 PharmGKB:PA117 rs740602 hCV2255322 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 AGCATGCGGAGCCCGGGAACGCACA[A/G]AGCGTGCTGGAGGCCATTGACACCT 19950268 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0.02 0.13 0 0 Homo sapiens C__31461270_10 COMT A/G M92|M92|M92|M42 PharmGKB:PA117 rs13306281 hCV31461270 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 CGAGCAGAAGGAGTGGGCCATGAAC[A/G]TGGGCGACAAGAAAGGTGGGGTCCG 19950323 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0 0 0 0 Homo sapiens C__25747675_20 COMT G/T L100|L100|L100|L50 PharmGKB:PA117 rs61910731 hCV25747675 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 TCCCCAACCCTGCACAGGCAAGATC[G/T]TGGACGCCGTGATTCAGGAGCACCA 19951097 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0 0 0 0 Homo sapiens C___2538750_10 COMT C/G ||| PharmGKB:PA117 rs4818 hCV2538750 ||| catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 GCCTGCTGTCACCAGGGGCGAGGCT[C/G]ATCACCATCGAGATCAACCCCGACT 19951207 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0.48 0.31 0.27 0.27 Homo sapiens C__27527902_10 COMT C/T V146|V146|V146|V96 PharmGKB:PA117 rs4986871 hCV27527902 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 ACCATCGAGATCAACCCCGACTGTG[C/T]CGCCATCACCCAGCGGATGGTGGAT 19951236 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0 0 0 0 Homo sapiens C__25746809_50 COMT A/G M158|M158|M158|M108 PharmGKB:PA117 rs4680 hCV25746809 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 CCAGCGGATGGTGGATTTCGCTGGC[A/G]TGAAGGACAAGGTGTGCATGCCTGA 19951271 NCBI Build 37.1 Human "22q11.21,22q11.21c" 22 0.43 0.26 0.37 0.31 Homo sapiens C___7543740_20 COMT A/G P199|P199|P199|P149 PharmGKB:PA117 rs769224 hCV7543740 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 ACCACTGGAAGGACCGGTACCTGCC[A/G]GACACGCTTCTCTTGGAGGTGAGCC 19951804 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0.03 0.13 0.06 0.03 Homo sapiens C___2255323_20 COMT C/T L203|L203|L203|L153 PharmGKB:PA117 rs165631 hCV2255323 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation catechol-O-methyltransferase NM_000754|NM_001135161|NM_001135162|NM_007310 ACCGGTACCTGCCGGACACGCTTCT[C/T]TTGGAGGTGAGCCCCAACCAGGATG 19951816 NCBI Build 37.1 Human "22q11.21c,22q11.21" 22 0.01 0 0 0 Homo sapiens C__16088765_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 C/T S335||| rs2893006 hCV16088765 Silent Mutation|UTR 5|UTR 5|UTR 5 "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 AGGTTTTCTTTAGTGTAATCCATAG[C/T]AGTTATTGCATTGGAGCAGCAGTCC 20687181 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0.26 0.24 0.05 0.04 Homo sapiens C__25621039_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G V369||| rs58976125 hCV25621039 Mis-sense Mutation|UTR 5|UTR 5|UTR 5 "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 CCTTTGTTTTTCCAAGAAACCCAGT[A/G]TAGATAACTTTTCCACAGCTGGATA 20687600 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0.01 0 0 Homo sapiens C__25621025_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 C/T T446|T0|T0|T0 rs34603556 hCV25621025 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 GTTCATTCTTTGGATTGGCAGATCA[C/T]GGTGGATGAGAATGACATCAGAGCT 20691047 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0.26 0.02 0.05 0.05 Homo sapiens C__25621024_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G A503|A58|A58|A58 rs61227829 hCV25621024 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 AGAGAGCAGCAAGGGAAGCAAATGC[A/G]TATGATTTTATCATGGAGTTTCCTA 20691219 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0.18 0.02 0 0.01 Homo sapiens C___2544197_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G E560|E115|E115|E115 rs2301641 hCV2544197 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 TACGTCTGCCCTGGATTCAGAAAGC[A/G]AGTCAGCTGTTCAAGCTGCACTGGA 20698270 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0.34 0.49 0.28 0.24 Homo sapiens C__25621012_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G A601|||A156 rs60403688 hCV25621012 Silent Mutation|||Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 TGACCCTAAAGGATGGAATGCTGGC[A/G]GAGAAAGGAGCACATGCTGAACTAA 20721223 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0.01 0 0 Homo sapiens C__31806807_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G R669|||R224 rs13222448 hCV31806807 Mis-sense Mutation|||Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 AAGGCTGAGGAATCCACCCAATCTA[A/G]AGAGGTAATGGCTCAGCGATCAACC 20725455 NCBI Build 37.1 Human "7p21.1,7p21.1a" 7 0 0 0 0 Homo sapiens C__31806808_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 G/T ||| rs13237007 hCV31806808 ||| "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 GAGGAATCCACCCAATCTAAAGAGG[G/T]AATGGCTCAGCGATCAACCAGTTTT 20725461 NCBI Build 37.1 Human "7p21.1,7p21.1a" 7 0 0 0 0 Homo sapiens C__29454155_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 C/T D724|||D279 rs11772720 hCV29454155 Silent Mutation|||Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 CTTTTCAGATGTTTGGAAATAATGA[C/T]AAAACCACATTAAAGCATGATGCAG 20739465 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0.02 0.03 0 0 Homo sapiens C__34097178_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 -/G ||| hCV34097178 ||| "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 AGGCAACAGGTTCCAGGATTGGCGT[-/G]CTTAACACAAAATGCAACTAACATG 20762662 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0 0 0 Homo sapiens C__25750368_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 G/T H905|||H460 rs35885925 hCV25750368 Mis-sense Mutation|||Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 AGCAAATGTATGAAGAGATGCTTCA[G/T]ACTCAACACAGGTGATTATAGATTC 20766752 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0.07 0 0 Homo sapiens C__25620999_10 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G T915|||T470 rs17143304 hCV25620999 Mis-sense Mutation|||Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 ACATTCCAGAAATACCTCGAAGAAA[A/G]CACAGATTATTGGAAGCTGTTATGC 20767954 NCBI Build 37.1 Human "7p21.1,7p21.1a" 7 0.01 0.19 0 0 Homo sapiens C___2631552_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G A934|||A489 rs10254317 hCV2631552 Silent Mutation|||Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 ATGCCTTTATATATTTTGCCTATGC[A/G]GCAGGGTTTCGATTTGGAGCCTATT 20768013 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0.35 0.23 0.23 0.31 Homo sapiens C__25621077_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G K970|||K525 rs6461515 hCV25621077 Mis-sense Mutation|||Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 TGCATATGGAGCTATGGCCATCGGA[A/G]AAACGCTCGTTTTGGCTCCTGAATA 20778646 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0.13 0.29 0.14 0.22 Homo sapiens C__25621065_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 C/T T1093|||T648 rs60197951 hCV25621065 Mis-sense Mutation|||Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 AATGTACAGTGGCTCCGTTCCCAAA[C/T]AGCAATCGTTCCTCAAGAGCCTGTG 20784910 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0.05 0 0 Homo sapiens C__34097413_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 -/G ||| hCV34097413 ||| "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 CAACTGCAGCATTGCTGAGAACATC[-/G]CCTATGGTGACAACAGCCGTGTGGT 20784966 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0 0 0 Homo sapiens C__25621064_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G K1124|||K679 rs59334881 hCV25621064 Mis-sense Mutation|||Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 CAACAGCCGTGTGGTGCCATTAGAT[A/G]AGATCAAAGAAGCCGCAAATGCAGC 20785002 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0.02 0 0 Homo sapiens C__25621063_20 ABCB5 ABCB5beta|EST422562|ABCB5alpha|tcag7.1091 A/G G1187|||G742 rs58795451 hCV25621063 Mis-sense Mutation|||Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 5" NM_001163941|NM_001163942|NM_001163993|NM_178559 TTGGATGAGGCCACTTCAGCCCTCG[A/G]TAATGACAGTGAGAAGGTAACATCA 20793113 NCBI Build 37.1 Human "7p21.1a,7p21.1" 7 0 0.14 0 0 Homo sapiens C____566822_10 CDA CDD G/A PharmGKB:PA98 rs602946 hCV566822 UTR 5 cytidine deaminase NM_001785 CTGGCTGCAGGGACACACCCAAGGG[G/A]AGGAGCTGCAATCGTGTCTGGGGCC 20915535 NCBI Build 37.1 Human "1p36.12b,1p36.12" 1 0.02 0 0 0 Homo sapiens C__25472931_20 CDA CDD A/C Q27 PharmGKB:PA98 rs2072671 hCV25472931 Mis-sense Mutation cytidine deaminase NM_001785 GCTGGTTTGCTCCCAGGAGGCCAAG[A/C]AGTCAGCCTACTGCCCCTACAGTCA 20915701 NCBI Build 37.1 Human "1p36.12b,1p36.12" 1 0.32 0.09 0.17 0.09 Homo sapiens C__30480743_10 CDA CDD A/G T70 PharmGKB:PA98 rs60369023 hCV30480743 Mis-sense Mutation cytidine deaminase NM_001785 GCTGGGCATCTGTGCTGAACGGACC[A/G]CTATCCAGAAGGCCGTCTCAGAAGG 20931474 NCBI Build 37.1 Human "1p36.12b,1p36.12" 1 0 0 0.02 0 Homo sapiens C___7477307_30 CDA CDD C/T T145 PharmGKB:PA98 rs1048977 hCV7477307 Silent Mutation cytidine deaminase NM_001785 TTGGGCCTGAGGACCTGCAGAAGAC[C/T]CAGTGACAGCCAGAGAATGCCCACT 20945055 NCBI Build 37.1 Human "1p36.12b,1p36.12" 1 0.36 0.39 0.25 0.19 Homo sapiens C__31106360_60 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 C/T L43 rs11045565 hCV31106360 Silent Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 GTCATTCAGCTATATTGCTAAAGCA[C/T]TAGGTGGAATCATTATGAAAATTTC 21008004 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0 0 0 0 Homo sapiens C__25639170_20 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 A/G V52 rs57325543 hCV25639170 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 AGGTGGAATCATTATGAAAATTTCC[A/G]TCACTCAAATAGAAAGGAGATTTGA 21008031 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0 0.01 0 0 Homo sapiens C__25639181_40 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 G/T A112 rs4149117 hCV25639181 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 TATGGGAACTGGAAGTATTTTGACA[G/T]CTTTACCACATTTCTTCATGGGATA 21011480 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0.19 0.41 0.32 0.32 Homo sapiens C__25765587_40 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 A/G I233 rs7311358 hCV25765587 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 CACTGGGATCTCTGTTTGCTAAAAT[A/G]TACGTGGATATTGGATATGTAGATC 21015760 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0.19 0.42 0.3 0.32 Homo sapiens C__25765255_20 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 C/G A256 rs60140950 hCV25765255 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 ACTCCTAAGGACTCTCGTTGGGTTG[C/G]AGCTTGGTGGCTTGGTTTCCTTGTG 21028208 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0.15 0.01 0 0 Homo sapiens C__25639160_20 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 A/G S437 rs61673910 hCV25639160 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 AATCTGCGAAAGCAAATCAGTTGCC[A/G]GCCTAACCTTGACCTATGATGGGTT 21032543 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0.02 0 0 0 Homo sapiens C___2809189_70 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 A/G A519 rs2053098 hCV2809189 Silent Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 GTCTCCAGAACAGAAATTACTCAGC[A/G]CACTTGGGTGAATGCCCAAGAGATA 21036411 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0.19 0.42 0.32 0.32 Homo sapiens C__25639161_20 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 C/T A560 rs12299012 hCV25639161 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 GGTACCACATTTATCTTGTTGACTG[C/T]GAAGTAAGTATGATCCTGTAAAACA 21036533 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0 0.04 0 0 Homo sapiens C___2809215_10 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 A/G G611 rs3764006 hCV2809215 Silent Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 CCACCAACAGCTGTGGAGCACAAGG[A/G]GCTTGTAGGATATATAATTCCGTAT 21054369 NCBI Build 37.1 Human "12p12.2,12p12.2a" 12 0.12 0.27 0.18 0.2 Homo sapiens C__25639162_20 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 A/G S659 rs60571683 hCV25639162 Silent Mutation "solute carrier organic anion transporter family, member 1B3" NM_019844 TTCAAGGAAAAGATACCAAGGCATC[A/G]GACAATGAAAGAAAAGTAATGGATG 21069049 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0 0.01 0 0 Homo sapiens C__33090599_10 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 -/C M695H rs72559744 hCV33090599 Frame Shift InDel "solute carrier organic anion transporter family, member 1B3" NM_019844 GATAGTAAAACATGTAATTTGGACA[-/C]TGCAAGACAATGCTGCTGCCAACTA 21069156 NCBI Build 37.1 Human "12p12.2,12p12.2a" 12 0 0 0 0 Homo sapiens C__32325356_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G PharmGKB:PA35842 rs4149015 hCV32325356 "solute carrier organic anion transporter family, member 1B1" NM_006446 ATATATATGTGCATATGTGTATACA[A/G]GTAAAAGTGTGTATATATGTATACA 21283322 NCBI Build 37.1 Human "12p12.2a,12p12.2" 12 0.06 0 0.19 0.17 Homo sapiens C__30633902_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T L73 PharmGKB:PA35842 rs56101265 hCV30633902 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TCTTGTTGGTTTTATTGACGGAAGC[C/T]TTGAAATTGGTAACATTTATTTTCT 21325716 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__30633903_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T A82 PharmGKB:PA35842 rs56061388 hCV30633903 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TTTCTAGGAAATTTGCTTGTGATTG[C/T]ATTTGTGAGTTACTTTGGATCCAAA 21327529 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C___1901697_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G D130 PharmGKB:PA35842 rs2306283 hCV1901697 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 CAGGTATTCTAAAGAAACTAATATC[A/G]ATTCATCAGAAAATTCAACATCGAC 21329738 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.3 0.27 0.23 0.38 Homo sapiens C__16193338_40 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G S151 PharmGKB:PA35842 rs2306282 hCV16193338 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TTAATTAATCAAATTTTATCACTCA[A/G]TAGAGCATCACCTGAGATAGTGGGA 21329802 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__30633905_60 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G G156 PharmGKB:PA35842 rs72559745 hCV30633905 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TTATCACTCAATAGAGCATCACCTG[A/G]GATAGTGGGAAAAGGTAAGAATTAA 21329817 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__30633906_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T A174 PharmGKB:PA35842 rs4149056 hCV30633906 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TCTGGGTCATACATGTGGATATATG[C/T]GTTCATGGGTAATATGCTTCGTGGA 21331549 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.13 0.02 0.19 0.12 Homo sapiens C___1901691_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T L191 PharmGKB:PA35842 rs4149057 hCV1901691 Silent Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 AATAGGGGAGACTCCCATAGTACCA[C/T]TGGGGCTTTCTTACATTGATGATTT 21331599 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.39 0.23 0.24 0.36 Homo sapiens C___1901690_1_ SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T F199 PharmGKB:PA35842 rs2291075 hCV1901690 Silent Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TGGGGCTTTCTTACATTGATGATTT[C/T]GCTAAAGAAGGACATTCTTCTTTGT 21331625 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.26 0.5 0.43 0.48 Homo sapiens C__27930113_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G E203 PharmGKB:PA35842 rs4603354 hCV27930113 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TACATTGATGATTTCGCTAAAGAAG[A/G]ACATTCTTCTTTGTATTTAGGTAAT 21331636 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__31106821_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G V245 PharmGKB:PA35842 rs11045852 hCV31106821 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TCTATAATTATTTATTCTAGGCACT[A/G]TCAGGATAACTCCTACTGATTCTCG 21349885 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.04 0 0 Homo sapiens C__31106822_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G Q253 PharmGKB:PA35842 rs11045853 hCV31106822 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 ATCAGGATAACTCCTACTGATTCTC[A/G]ATGGGTTGGAGCTTGGTGGCTTAAT 21349910 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.01 0 0 Homo sapiens C__33090560_20 SLCO1B3 LST3|OATP8|OATP1B3|SLC21A8|LST-3TM13 -/A rs72559742 hCV33090560 "solute carrier organic anion transporter family, member 1B3" NM_019844 TTCCATACCATTTTTTTTCTTGCCG[-/A]AAAATCCAAATAAACCACAAAAAGA 21349993 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0 0 0 Homo sapiens C__31106823_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G L294 PharmGKB:PA35842 rs11045854 hCV31106823 Silent Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 CACAAAAAGAAAGAAAAGCTTCACT[A/G]TCTTTGCATGTGCTGGAAACAAATG 21350034 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.04 0 0 Homo sapiens C__30633907_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T T353 PharmGKB:PA35842 rs55901008 hCV30633907 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 ACGTTGTTACAAGTAAGCAGCTATA[C/T]TGGTGCTTTTACTTATGTCTTCAAA 21353529 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0 0 0 Homo sapiens C__25605972_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/T Y362 PharmGKB:PA35842 rs57040246 hCV25605972 Silent Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 GTGCTTTTACTTATGTCTTCAAATA[C/T]GTAGAGCAACAGTATGGTCAGCCTT 21353557 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.06 0 0 Homo sapiens C__25751998_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G V416 PharmGKB:PA35842 rs11045859 hCV25751998 Silent Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 CCAAATTCTCATGTTTTACTGCTGT[A/G]ATGTCATTGTCCTTTTACCTATTAT 21355537 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.13 0 0 Homo sapiens C__30633908_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G D432 PharmGKB:PA35842 rs56387224 hCV30633908 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 ATTATATTTTTTCATACTCTGTGAA[A/G]ACAAATCAGTTGCCGGACTAACCAT 21355583 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__30633909_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G G462 PharmGKB:PA35842 rs72559748 hCV30633909 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 GTACCACTTTCTTATTGCAACTCAG[A/G]CTGCAATTGTGATGAAAGTCAATGG 21358855 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__30633910_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 C/G A488 PharmGKB:PA35842 rs59502379 hCV30633910 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 ACTTACATCTCACCCTGTCTAGCAG[C/G]TTGCAAATCTTCAAGTGGCAATAAA 21358933 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0.09 0 0 Homo sapiens C__25605954_10 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/C F643 PharmGKB:PA35842 rs34671512 hCV25605954 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 CATCACTTGTTTTATATATTATATT[A/C]ATTTATGCCATGAAGAAAAAATATC 21391976 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.05 0.03 0 0 Homo sapiens C__30633911_60 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 A/G G655 PharmGKB:PA35842 rs56199088 hCV30633911 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 ATGAAGAAAAAATATCAAGAGAAAG[A/G]TATCAATGCATCAGAAAATGGAAGT 21392011 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__30633912_20 SLCO1B1 LST1|LST-1|OATP2|OATPC|OATP-C|OATP1B1|SLC21A6|MGC133282 G/A G667 PharmGKB:PA35842 rs55737008 hCV30633912 Mis-sense Mutation "solute carrier organic anion transporter family, member 1B1" NM_006446 TCAGAAAATGGAAGTGTCATGGATG[G/A]AGCAAACTTAGAATCCTTAAATAAA 21392047 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__31106968_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/G S668|S668 PharmGKB:PA328 rs11568557 hCV31106968 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AATATAATAGGACAATTACAATTTA[C/G]TTTTCAATTCATCATCTTTCAAAAC 21422492 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.06 0 0 Homo sapiens C___1883759_30 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T | PharmGKB:PA328 rs4337089 hCV1883759 Intron|Intron "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 GTGTGCTGCATTCTCATATTTATAA[C/T]GTGCTTTTTACATACAGAAGGGACA 21427952 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.07 0.01 0 0 Homo sapiens C__25605925_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G | PharmGKB:PA328 rs11568565 hCV25605925 | "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AACTATTTTTACCAAATACTCTTGT[A/G]CAAAATGTATGTAATCCCACACCAA 21428307 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.02 0.03 0 0 Homo sapiens C__25605934_30 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T S460|S460 PharmGKB:PA328 rs11568574 hCV25605934 Silent Mutation|Silent Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AACCAGCAAGACAAGCTGACAGATA[C/T]GACAAGCCATTGTTTCCACACACAG 21446936 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.02 0 0 Homo sapiens C__31107031_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T V355|V355 PharmGKB:PA328 rs45628437 hCV31107031 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AAAACAAACATACCCATTAGAAAGA[C/T]TGCATCTGAAGATGATATTCCATAT 21450350 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__31107032_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G P323|P323 PharmGKB:PA328 rs11568579 hCV31107032 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 TGCATTGAACTGTATCACACTTACA[A/G]GTATGAAAAGCATATAAATTGGATT 21450445 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__25605936_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G N256|N256 PharmGKB:PA328 rs11568554 hCV25605936 Silent Mutation|Silent Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AGAAAAAAGGAATGGCAGTGAGCAC[A/G]TTAACTCCTGCACAAATCAGAAAGC 21453424 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.03 0 0 Homo sapiens C__25605943_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G V242|V242 PharmGKB:PA328 rs11568550 hCV25605943 Silent Mutation|Silent Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 TCAGAAAGCCAAACCACCATGCACC[A/G]ACCCAACGAGTGTCAGTGGGAGTTA 21453466 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.02 0 0 Homo sapiens C__25605897_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 G/T D172|D172 PharmGKB:PA328 rs11568563 hCV25605897 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AAATACCCAAAGGCAGGATGGGAGT[G/T]TCACCCATTCCACGTACAATATTGC 21457434 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.09 0.02 0 0 Homo sapiens C__31107047_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G C168|C168 PharmGKB:PA328 rs11568564 hCV31107047 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AGGATGGGAGTTTCACCCATTCCAC[A/G]TACAATATTGCCTACTAGGACGTAC 21457448 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__31107052_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/T I135|I135 PharmGKB:PA328 rs45502302 hCV31107052 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 CGTTGGTCTTAAAATCTGGGTTCCA[A/T]TTTCCATACACAAGAAACTGTTTGA 21459854 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0 0 0 Homo sapiens C__25605898_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/T Y128|Y128 PharmGKB:PA328 rs11568567 hCV25605898 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 CCATTTTCCATACACAAGAAACTGT[A/T]TGAGGACAAGTTGCCTGAAACTGAA 21459876 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.01 0 0 Homo sapiens C__27534964_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T | PharmGKB:PA328 rs4115170 hCV27534964 Intron|Intron "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 ATAGCAGGCACCCAATACAAGTTTA[C/T]TGAATTAATGACAGAATAAGTATCA 21474963 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.29 0.24 0.24 0.47 Homo sapiens C__29092206_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 C/T | PharmGKB:PA328 rs7298982 hCV29092206 Intron|Intron "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 GACTTAAAGTCTGTGTTGATGTTAG[C/T]TCTGGTTGGTTTTTTCCTGAATTCC 21475627 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0.02 0 0 Homo sapiens C__30633915_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G | PharmGKB:PA328 rs7484455 hCV30633915 Intron|Intron "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 CTCATAACTGGGAGTCTTATATCCA[A/G]AAGGCTTTGTCACAAGGTATCTTTA 21476591 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0 0 0 Homo sapiens C___1883832_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/T | PharmGKB:PA328 rs7957203 hCV1883832 Intron|Intron "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 AATCAGTGTCTCCAATTGTCCTGTT[A/T]TAAAACAAAAGACTCTTACTAAACT 21477462 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.25 0.24 0.24 0.47 Homo sapiens C__31107109_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G | PharmGKB:PA328 rs11568572 hCV31107109 | "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 TACAAAAATTCCATACCTTCAACTT[A/G]GAAAGACATCTTATTCTATGGGTTT 21487531 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0.01 Homo sapiens C__25605906_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G T13|T13 PharmGKB:PA328 rs10841795 hCV25605906 Mis-sense Mutation|Mis-sense Mutation "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 TACCTTCAACTTGGAAAGACATCTT[A/G]TTCTATGGGTTTCAATTCTTTTCTC 21487544 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.07 0.01 0 0 Homo sapiens C__31107179_10 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G | PharmGKB:PA328 rs10841803 hCV31107179 |UTR 5 "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 GGAAGATGATGATAGTAACATAGCA[A/G]GCACTTCACAAAGCACCGTAAGTGT 21547875 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.16 0.16 0.25 0.48 Homo sapiens C__31107180_20 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 A/G | PharmGKB:PA328 rs10841804 hCV31107180 |UTR 5 "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 TTCATCTCACTAGGGAGTGCCAGAC[A/G]ATGGGCGCAGGTCAGTGGGTGCGCG 21548075 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.11 0.1 0.24 0.49 Homo sapiens C__31107182_50 SLCO1A2 OATP|OATP-A|OATP1A2|SLC21A3 G/T | PharmGKB:PA328 rs12816889 hCV31107182 |UTR 5 "solute carrier organic anion transporter family, member 1A2" NM_021094|NM_134431 TTTCTGAGTCAAAGAAAGGGGTGAC[G/T]GACGCACCTGGAAAATCGGGTCACT 21548196 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.21 0.07 0.07 0.03 Homo sapiens C__33091394_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 C/T T1513||T1477 PharmGKB:PA396 rs72559751 hCV33091394 Mis-sense Mutation|Intron|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 TCAGAAAAGACTAAAACAAGGCCTG[C/T]ATCCATAATAGAAGAGACACGGTGC 21958221 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__33091401_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G R1411|R1411|R1375 PharmGKB:PA396 rs17846782 hCV33091401 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 CAGAGTCTGTCATCTGTGCATTTGC[A/G]CTCTGGATCTAAATTAAATCTGTAG 21962870 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0 0 0 Homo sapiens C__31107705_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 C/T K1217|K1217|K1181 PharmGKB:PA396 rs12298510 hCV31107705 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 ACGTACCGTCCTGACCTCCAGCCAT[C/T]TGTTGGCAGCTGAGAGAAATAAGTA 21981911 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__33091424_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G N1205|N1205|N1169 PharmGKB:PA396 rs17846779 hCV33091424 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 CTGAGAGAAATAAGTAGGCAATGTT[A/G]TTTGTATCCGTCAGTTCCAGCATAC 21981946 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__16182470_20 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 C/T L1119|L1119|L1083 PharmGKB:PA396 rs2287626 hCV16182470 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 TCATCCCAATGGCAGACAGGCAGAG[C/T]AGTGTTGAGCGAGTTAGAGATTCCA 21995364 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0.03 0 Homo sapiens C__25604216_20 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G I1107|I1107|I1071 PharmGKB:PA396 rs35404804 hCV25604216 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 GAGTTAGAGATTCCAAGGTTGGAGG[A/G]ATGTGCTATTAGGGTAGTTTAAAAG 21995400 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.03 0 0 Homo sapiens C__15965722_20 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G D954|D954|D918 PharmGKB:PA396 rs2291550 hCV15965722 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 GATAAAAGAAAAAAGATCTACCTTC[A/G]TCTTCGTCCTCCATCTGGGCTTTGG 22001088 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0.01 0 Homo sapiens C__25604251_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 C/T I734|I734|I698 PharmGKB:PA396 rs61688134 hCV25604251 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 TCAAAAGAAGGCTCAGATTCATTTA[C/T]ACTGCAAGTATAGCAAACAATGTTC 22017410 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0.02 0 0 0 Homo sapiens C__25604253_20 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G D616|D616|D616 PharmGKB:PA396 rs61001398 hCV25604253 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 AACTTTCACCAGTTCGCCAACTGTC[A/G]TCACCAATCTCATCACTCAAGAGAA 22040823 NCBI Build 37.1 Human "12p12.1,12p12.1e" 12 0 0.03 0 0 Homo sapiens C__29454107_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G P432|P432|P432 PharmGKB:PA396 rs10770865 hCV29454107 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 CCTGAACAGGCATAGCCCATAGATT[A/G]GGACACAGGAACAAAAACCACATGA 22063115 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.01 0 0 Homo sapiens C__29454108_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 C/T K345|K345|K345 PharmGKB:PA396 rs72559752 hCV29454108 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 GAACGTAAGCGTTTTCAAGAAATTC[C/T]TTTGATGAGAGGGTTTCTGAAATCT 22063889 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C__25604289_20 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/G C263|C263|C263 PharmGKB:PA396 rs58386780 hCV25604289 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 TTTGTTCTTCATATGCATCTTTCAG[A/G]CAAACATAATTTGTTACTGCTCTCA 22068629 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0.06 0 0 Homo sapiens C__33091511_10 ABCC9 SUR2|ABC37|CMD1O|FLJ36852 A/C L223|L223|L223 PharmGKB:PA396 rs17846788 hCV33091511 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 9" NM_005691|NM_020297|NM_020298 TCATCCACCAGTATGTTGCTTTTGA[A/C]AGCAAATTCACAAATGGTTGAAGAA 22068749 NCBI Build 37.1 Human "12p12.1e,12p12.1" 12 0 0 0 0 Homo sapiens C____773142_20 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 A/G || PharmGKB:PA35925 hCV773142 || "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 ATGCACGGCTTACCCACGATCCTTC[A/G]GAGGTAAAGCGGTCGCTTATGTTCT 23243154 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C__11436680_20 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 C/T L373|L373|L373 PharmGKB:PA35925 rs1805062 hCV11436680 Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 TGAGCTGGAAGATGTCTTCCACGCA[C/T]AAGTAGATCAATGCCATGATACCCT 23243689 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C__32009643_10 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 C/T Q355|Q355|Q355 PharmGKB:PA35925 rs11568423 hCV32009643 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 GAGCAGAGAAGGCACTGGTGTGAAC[C/T]GCTCAACATGGATCATGCAGATGGC 23244684 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C____773138_20 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 A/C R334|R334|R334 PharmGKB:PA35925 rs72552272 hCV773138 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 GCCTTCTCTTGAGCCCACAAAGAAA[A/C]GCCTATGTTAGGTAAGATAGGAGAA 23244747 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C____773137_20 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 C/T || PharmGKB:PA35925 hCV773137 || "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 CTTCAGTGACATAGTTGAGGGTGTC[C/T]CAGCCTGAGTAGGAGAACAGAGCTG 23248046 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C__27860593_10 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 A/G || PharmGKB:PA35925 hCV27860593 || "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 GTTGAGGGTGTCCCAGCCTGAGTAG[A/G]AGAACAGAGCTGAGTACAGTGCCAG 23248059 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C__32009637_10 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 C/T C233|C233|C233 PharmGKB:PA35925 rs11568432 hCV32009637 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 GCCTGAGTAGGAGAACAGAGCTGAG[C/T]ACAGTGCCAGGGCAATGTCACCCAC 23248074 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C__30634141_10 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 A/G F152|F152|F152 PharmGKB:PA35925 rs8016634 hCV30634141 Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 GCAGGCGGCTGGCAGCATAAGGGGC[A/G]AAGCAGCTCGGGAAGAGAGGCTGTA 23282152 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0.06 0 0 Homo sapiens C__25765599_20 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 A/G V91|V91|V91 PharmGKB:PA35925 rs11568438 hCV25765599 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 TTTCTTAATGGTGGTGCCCAGTTCC[A/G]CATAACAAAGGGCCCCAAAGACGGA 23282336 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C__32009582_10 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 C/T K32|K32|K32 PharmGKB:PA35925 rs45479698 hCV32009582 Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 TAAGCAGTGAGATCTCCTTCTTCAG[C/T]TTCACCTGCTCCGGCCCTGGGCTGG 23282512 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C__25592629_20 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 C/T || PharmGKB:PA35925 rs72552273 hCV25592629 UTR 5|UTR 5|UTR 5 "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 TCAACCATGGTGGAGGAGAGGAAAC[C/T]CTTCACCAGCTTCCTGGCATTGCCC 23282625 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0 0 0 0 Homo sapiens C___3036255_30 SLC7A7 LPI|LAT3|MOP-2|Y+LAT1|y+LAT-1 A/G || PharmGKB:PA35925 rs2281677 hCV3036255 UTR 5|UTR 5|UTR 5 "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" NM_001126105|NM_001126106|NM_003982 AGCAGGTTCTCACGGCAGTGTGAGC[A/G]GCAGTCAGGGAGAGAAGTGCCTTCC 23284572 NCBI Build 37.1 Human "14q11.2f,14q11.2" 14 0.36 0.46 0.27 0.27 Homo sapiens C___2211556_20 GSTT2 GSTT2B|MGC182032|hCG_41095 C/T hCV2211556 glutathione S-transferase theta 2 NM_000854 TCAAGGATGGTGATTTCATCTTGAC[C/T]GAAAGGTGCCCTCCTTCCCTCACCC 24323221 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0.01 Homo sapiens C___8717129_20 GSTT2 GSTT2B|MGC182032|hCG_41095 C/T L68 rs1126752 hCV8717129 Mis-sense Mutation glutathione S-transferase theta 2 NM_000854 AGCCACTGCCCATTTGTTCCCAGCT[C/T]GGCCATCCTGATTTACCTGAGCTGT 24324821 NCBI Build 37.1 Human "22q11.23,22q11.23b" 22 0 0 0 0 Homo sapiens C___8717067_10 GSTT2 GSTT2B|MGC182032|hCG_41095 A/G rs1622002 hCV8717067 glutathione S-transferase theta 2 NM_000854 AGGTGGAACGCAACAGGACTGCCAT[A/G]GACCAGGCCCTGCAATGGCTGGAGG 24325127 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0.01 0.11 0.18 0.17 Homo sapiens C__11486658_20 GSTT1 C/T K173 PharmGKB:PA183 rs2234953 hCV11486658 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 CCCACAGCACTCACATGCATCAGCT[C/T]CGTGATGGCTACGAGGTCAGCTAAG 24376833 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0 Homo sapiens C___8717770_20 GSTT1 C/T I169 PharmGKB:PA183 rs2266637 hCV8717770 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 ACATGCATCAGCTCCGTGATGGCTA[C/T]GAGGTCAGCTAAGGAGATGTGAGGA 24376845 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0.14 0 0 Homo sapiens C___8717769_10 GSTT1 C/T N141 PharmGKB:PA183 rs2266633 hCV8717769 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 TCCTCGAGCAACTGCAGGGTCACAT[C/T]CAACTCTGCCAGGGTGGCTGCCAGT 24376929 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0 Homo sapiens C___8717759_20 GSTT1 C/T V118 PharmGKB:PA183 rs2266636 hCV8717759 Silent Mutation glutathione S-transferase theta 1 NM_000853 GCTCACCCAGGAAAACAGGGAACAT[C/T]ACCTGGGGATTGGGCAGGCAAAGTC 24376996 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0 Homo sapiens C__32365048_10 GSTT1 G/T P104 PharmGKB:PA183 rs11550605 hCV32365048 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 CGGAGGCAGCTTCTCCGCAGAGTCG[G/T]GTGCTGCCATGCCAGGTACTCATCC 24379402 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0 Homo sapiens C__33859933_10 GSTT1 A/C C45 PharmGKB:PA183 rs17856199 hCV33859933 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 CTTCTTGAGGGGGTTCACCTGGGCA[A/C]AGGCATCGCTTAAGTGCTGACCTGG 24381766 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0 Homo sapiens C___8717739_20 GSTT1 C/T T21 PharmGKB:PA183 rs2266635 hCV8717739 Mis-sense Mutation glutathione S-transferase theta 1 NM_000853 TCGAAGGGAATGTCGTTCTTCTTGG[C/T]AAAGATGTAAACAGCGCGGCAGGGC 24384171 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0 Homo sapiens C__30634020_10 GSTT1 C/G L5 PharmGKB:PA183 rs1130990 hCV30634020 Silent Mutation glutathione S-transferase theta 1 NM_000853 AGGGCTGGGACAGCAGGTCCAGGTA[C/G]AGCTCCAGGCCCATAGTGGGGACCG 24384217 NCBI Build 37.1 Human "22q11.23b,22q11.23" 22 0 0 0 0 Homo sapiens C__33451239_10 CHST9 FLJ42328|GALNAC4ST-2|UNQ2549/PRO6175 -/T hCV33451239 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 TAAATACTGTCTCACGACTTGAGCA[-/T]TTGGTTCTTTCATCGGAAGAGTGCC 24496338 NCBI Build 37.1 Human "18q11.2,18q11.2e" 18 0 0 0 0 Homo sapiens C____968208_30 CHST9 FLJ42328|GALNAC4ST-2|UNQ2549/PRO6175 G/T T213 rs418546 hCV968208 Mis-sense Mutation carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 CTTAGGTACCTCACAATATAAGATT[G/T]TGTGTTTATCTTCTACATAGATTCT 24496917 NCBI Build 37.1 Human "18q11.2e,18q11.2" 18 0 0 0 0 Homo sapiens C__25747922_20 CHST9 FLJ42328|GALNAC4ST-2|UNQ2549/PRO6175 C/T N122 rs17694469 hCV25747922 Mis-sense Mutation carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 CTCTGTTGGTGACCCTGTGGACTTA[C/T]TTAAAGCTTGATCCCCTCCTTGTGA 24497190 NCBI Build 37.1 Human "18q11.2e,18q11.2" 18 0.08 0 0 0 Homo sapiens C____968209_30 CHST9 FLJ42328|GALNAC4ST-2|UNQ2549/PRO6175 G/T P111 rs417808 hCV968209 Mis-sense Mutation carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 TGATCCCCTCCTTGTGAATGACTGG[G/T]CTTTGTTAAGAGCCTAGTAGATCTC 24497224 NCBI Build 37.1 Human "18q11.2e,18q11.2" 18 0 0 0 0 Homo sapiens C__29486630_10 ALDH5A1 SSDH|SSADH A/G R176|R176 rs72552281 hCV29486630 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 CTCTGAGGAAGCCCGCCGTGTTTAC[A/G]GAGACATTATCCACACCCCGGCAAA 24503578 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__27480650_10 ALDH5A1 SSDH|SSADH C/T L182|L182 rs3765310 hCV27480650 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 GTTTACGGAGACATTATCCACACCC[C/T]GGCAAAGGACAGGCGGGCCCTGGTC 24503597 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0.01 0 0.07 0.05 Homo sapiens C__33445812_10 ALDH5A1 SSDH|SSADH A/T | hCV33445812 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 AAAGGACAGGCGGGCCCTGGTCCTC[A/T]AGCAGCCCATAGGCGTGGCTGCAGT 24503626 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__30262420_10 ALDH5A1 SSDH|SSADH A/G Y223|Y223 rs72552282 hCV30262420 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 GTGGGGGCCGCCCTGGCAGCCGGCT[A/G]TACTGTCGTGGTGAAGCCTGCCGAA 24505155 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__33445814_10 ALDH5A1 SSDH|SSADH C/T | hCV33445814 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 GTCGTGGTGAAGCCTGCCGAAGACA[C/T]GCCCTTCTCCGCCCTGGCCCTGGCT 24505185 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__33445825_10 ALDH5A1 SSDH|SSADH A/G | hCV33445825 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 GCTGGGATTCCTTCAGGTGTATACA[A/G]TGTTATTCCCTGTTCTCGAAAGAAT 24515432 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__30424723_10 ALDH5A1 SSDH|SSADH C/T | hCV30424723 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 TGTATACAATGTTATTCCCTGTTCT[C/T]GAAAGAATGCCAAGGAAGTAGGGGA 24515449 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__27528354_10 ALDH5A1 SSDH|SSADH A/G | hCV27528354 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 TCTCGAAAGAATGCCAAGGAAGTAG[A/G]GGAGGCAATTTGTACTGATCCTCTG 24515471 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__30208322_10 ALDH5A1 SSDH|SSADH A/C K335|K348 rs72552283 hCV30208322 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 GGGCCATGGCATCTAAATTTAGGAA[A/C]ACTGGACAGGTGAGTCCTGGAGAGT 24520763 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__27536222_10 ALDH5A1 SSDH|SSADH A/G | hCV27536222 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 TCTAAAGGTGCCACCGTTGTGACAG[A/G]TGGAAAACGACACCAACTTGGAAAA 24528277 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__27540521_20 ALDH5A1 SSDH|SSADH C/T | hCV27540521 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 TGCCACCGTTGTGACAGGTGGAAAA[C/T]GACACCAACTTGGAAAAAATTTCTT 24528285 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__25941229_20 ALDH5A1 SSDH|SSADH C/T D463|D476 rs58747567 hCV25941229 Silent Mutation|Silent Mutation "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 CTATAGCAATCGCTAACGCAGCTGA[C/T]GTTGGGTTAGCAGGTAGGTGTTTGT 24532392 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0.01 0.01 0 0 Homo sapiens C__27528450_10 ALDH5A1 SSDH|SSADH A/T | hCV27528450 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 TGGAGAGTGGCAGAGCAGCTGGAAG[A/T]GGGCATGGTTGGCGTCAACGAAGGA 24533792 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__30154475_10 ALDH5A1 SSDH|SSADH C/T | hCV30154475 | "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 TGGAGTGAAGCAGTCCGGCCTTGGG[C/T]GAGAGGGGTCCAAGTATGGCATTGA 24533872 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C__30190407_10 ALDH5A1 SSDH|SSADH A/G R533|R546 rs72552284 hCV30190407 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 5 family, member A1" NM_001080|NM_170740 TCTGGAACTCAAGTATGTGTGTTAC[A/G]GGGGCTTGTAGGATTCTTTGGTTCT 24533929 NCBI Build 37.1 Human "6p22.3a,6p22.3" 6 0 0 0 0 Homo sapiens C___7492479_30 CHST9 FLJ42328|GALNAC4ST-2|UNQ2549/PRO6175 G/T H49 rs1155514 hCV7492479 Mis-sense Mutation carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 ACAAAATCTTACCTGAAGTTACTTT[G/T]TGTTCTCTTCTCTTCTCCACTCTCC 24628442 NCBI Build 37.1 Human "18q11.2e,18q11.2" 18 0 0 0 0 Homo sapiens C__33451438_10 CHST9 FLJ42328|GALNAC4ST-2|UNQ2549/PRO6175 -/A hCV33451438 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 TGAAGAGGAGTAGCCCAGCTACTCC[-/A]AAATATCAGCACAGAGAGGAAGACT 24722714 NCBI Build 37.1 Human "18q11.2e,18q11.2" 18 0 0 0 0 Homo sapiens C__25744034_20 CHST9 FLJ42328|GALNAC4ST-2|UNQ2549/PRO6175 A/G rs28693844 hCV25744034 UTR 5 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 NM_031422 TCCCGTAAAACTTCAGTCTTTTCTT[A/G]TTCTCTAAGAGCCCAATTCCATAAA 24722839 NCBI Build 37.1 Human "18q11.2e,18q11.2" 18 0 0.04 0.04 0.01 Homo sapiens C__11704722_20 EPHX2 CEH|SEH A/C G21 rs2234912 hCV11704722 Silent Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 TGCTGGCGCTGCCAGCGGTGTTCGG[A/C]GTCCTCGGCCGCACGGAGGAGGCCC 27348788 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0 0.01 0 0 Homo sapiens C__32297897_10 EPHX2 CEH|SEH A/G R55 rs41507953 hCV32297897 Mis-sense Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 GAGGGTGCCACTACCCGGCTTATGA[A/G]AGGAGAGATCACACTTTCCCAGGTG 27358505 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0.09 0.24 0 0.02 Homo sapiens C__32587583_10 EPHX2 CEH|SEH C/T C103 rs17057255 hCV32587583 Mis-sense Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 GGCGATTTCAGCCAGAAAGATCAAC[C/T]GCCCCATGCTCCAGGCAGCTCTCAT 27361241 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0 0.14 0 0 Homo sapiens C__32297895_10 EPHX2 CEH|SEH A/G Y154 rs57699806 hCV32297895 Mis-sense Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 CACTTTGACTTCCTGATAGAGTCGT[A/G]TCAGGTGGGAATGGTCAAACCTGAA 27362587 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0 0 0 0.05 Homo sapiens C___2045403_20 EPHX2 CEH|SEH A/C G197 rs11996801 hCV2045403 Silent Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 ATCTGAAGCCAGCCCGTGACTTGGG[A/C]ATGGTCACCATCCTGGTCCAGGACA 27364442 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0 0.13 0 0 Homo sapiens C__32587580_10 EPHX2 CEH|SEH -/T hCV32587580 "epoxide hydrolase 2, cytoplasmic" NM_001979 TGAAAGAACTGGAGAAAGTGACCGG[-/T]AATCCAGGTAACTTGACTTCTGAGC 27364505 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0 0 0 0 Homo sapiens C__25649022_20 EPHX2 CEH|SEH G/T R270 rs35169320 hCV25649022 Mis-sense Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 GCCTCTGCCATGGATTTCCCGAGAG[G/T]TGGTATTCTTGGAGGTACCAGGTGA 27373309 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0 0.01 0 0 Homo sapiens C___2045398_20 EPHX2 CEH|SEH A/G Q287 rs751141 hCV2045398 Mis-sense Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 CCTGCTCTGGCCCAGGCAGGTTACC[A/G]GGTCCTAGCTATGGACATGAAAGGC 27373865 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0.1 0.1 0.23 0.23 Homo sapiens C__11704720_20 EPHX2 CEH|SEH C/T S412 rs13439459 hCV11704720 Silent Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 CTTTCAAAAGCCTCTTCAGAGCAAG[C/T]GATGAGGTGAGGGGTGGGGATGGGT 27394366 NCBI Build 37.1 Human "8p21.2,8p21.2a" 8 0.08 0.1 0 0.01 Homo sapiens C___2045388_20 EPHX2 CEH|SEH A/G A425 rs4149253 hCV2045388 Silent Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 TATCCATGCATAAAGTCTGTGAAGC[A/G]GGTAAGAGACATGCTTGGGAGAGCC 27396208 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0.06 0.1 0.19 0.17 Homo sapiens C__32587520_10 EPHX2 CEH|SEH A/G G470 rs68053459 hCV32587520 Mis-sense Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 CCTCTAAACTGGTACCGAAACATGG[A/G]AAGGAACTGGAAGTGGGCTTGCAAA 27399019 NCBI Build 37.1 Human "8p21.2a,8p21.2" 8 0 0 0 0 Homo sapiens C___2045379_20 EPHX2 CEH|SEH A/C P531 rs1126452 hCV2045379 Silent Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 TTTACTTCTCCCTTTCCCCCAGGCC[A/C]ACCGAGGTGAATCAGATCCTCATTA 27401964 NCBI Build 37.1 Human "8p21.1e,8p21.1" 8 0.26 0.36 0.41 0.45 Homo sapiens C__30419068_20 EPHX2 CEH|SEH C/T L550 rs4987060 hCV30419068 Mis-sense Mutation "epoxide hydrolase 2, cytoplasmic" NM_001979 CTGGATTCTGATGCCCGGAACCCAC[C/T]GGTGGTCTCAAAGATGTAGAACGCA 27402020 NCBI Build 37.1 Human "8p21.1e,8p21.1" 8 0 0 0 0 Homo sapiens C___8723068_30 SLC5A6 SMVT C/T rs7081 hCV8723068 UTR 3 "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 ATAGATGGCTGCTCCACAGTGGACC[C/T]GGTCATGGCCCTGGTTTCTTGGATC 27422605 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0.04 0.48 0 0 Homo sapiens C___8723077_20 SLC5A6 SMVT C/T N492 rs1064845 hCV8723077 Mis-sense Mutation "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 GGTTAGATTGGTGGGCAGGGAGAAG[C/T]TGGACCCATTAGAGGGAGAGGGTGG 27424603 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0 0.01 0 0 Homo sapiens C___3240199_30 SLC5A6 SMVT A/G rs1395 hCV3240199 "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 ATTAGAGGGAGAGGGTGGCATGCTG[A/G]AGCCCATGCTGGTCACGATGCTCCC 27424636 NCBI Build 37.1 Human "2p23.3,2p23.3a" 2 0.29 0.27 0.13 0.19 Homo sapiens C__25600773_20 SLC5A6 SMVT A/G I475 rs61360024 hCV25600773 Silent Mutation "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 GCATGCTGGAGCCCATGCTGGTCAC[A/G]ATGCTCCCGATGCCAATCCAGAAGG 27424653 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0 0.02 0 0 Homo sapiens C__25600772_20 SLC5A6 SMVT C/T R473 rs57981824 hCV25600772 Mis-sense Mutation "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 GAGCCCATGCTGGTCACGATGCTCC[C/T]GATGCCAATCCAGAAGGCCATGACG 27424661 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0.01 0 0 0 Homo sapiens C__25600831_20 SLC5A6 SMVT A/G F336 rs59827696 hCV25600831 Silent Mutation "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 GGAGATCCATCACAAAGTACAGGAC[A/G]AACTGCAAGCAGAGCGGAGGTACAC 27426733 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0 0.01 0 0 Homo sapiens C___8723091_30 SLC5A6 SMVT A/G T311 rs1275523 hCV8723091 Mis-sense Mutation "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 GTAATACGCGAACATGACCAGGCCA[A/G]TGAGGCAGCCCACGCAGAGGGACAC 27427402 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0 0 0 0 Homo sapiens C___8723100_30 SLC5A6 SMVT A/G I219 rs1275524 hCV8723100 Silent Mutation "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 AGCCGCCCACCTTGGCTGACCCCAC[A/G]ATGATAACTGCCAGCTGCCCGAGGA 27428295 NCBI Build 37.1 Human "2p23.3,2p23.3a" 2 0 0 0 0 Homo sapiens C__33109676_10 SLC5A6 SMVT -/C hCV33109676 "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 CTGCCCGAGGAACATGACCAGTGTC[-/C]TGGAACACATCTGTCCAGATGACGG 27428335 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0 0 0 0 Homo sapiens C__25600794_20 SLC5A6 SMVT A/G Y132 rs61280535 hCV25600794 Silent Mutation "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 CAGTTTTATTGAATCGAAGCTCCAG[A/G]TACTGGGTATACAGAAAAAAAGATT 27429808 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0.04 0.01 0 0 Homo sapiens C__25600793_20 SLC5A6 SMVT C/T rs56970590 hCV25600793 "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" NM_021095 CCAGGAACCAATATTGGGTCCCAAA[C/T]CGGTAGATCTCTGACGGCACACCCA 27430237 NCBI Build 37.1 Human "2p23.3a,2p23.3" 2 0.03 0.1 0 0 Homo sapiens C__25640251_20 GPX6 GPX5p|GPXP3|GPx-6|GSHPx-6|dJ1186N24|dJ1186N24.1 C/T rs36055795 hCV25640251 glutathione peroxidase 6 (olfactory) NM_182701 ACCTTCTGTTCTTTTTCTCCATTCA[C/T]ATCCCCTTTCTCAAAGAGCTGGAAA 28473521 NCBI Build 37.1 Human "6p22.1c,6p22.1" 6 0 0.02 0 0 Homo sapiens C__25640265_20 GPX6 GPX5p|GPXP3|GPx-6|GSHPx-6|dJ1186N24|dJ1186N24.1 A/C H58 rs6922986 hCV25640265 Mis-sense Mutation glutathione peroxidase 6 (olfactory) NM_182701 CAAACAGGACGTGCTTGCCTGCAAA[A/C]TGCTTGAATTGGATGTACTCCTCGC 28478595 NCBI Build 37.1 Human "6p22.1c,6p22.1" 6 0 0.01 0 0 Homo sapiens C___2491865_20 GPX6 GPX5p|GPXP3|GPx-6|GSHPx-6|dJ1186N24|dJ1186N24.1 A/C L13 rs406113 hCV2491865 Mis-sense Mutation glutathione peroxidase 6 (olfactory) NM_182701 TCTGCTGAGCAAAGCCAACCAGGAA[A/C]AACAGGACAAGACAGGAGGCCTGGA 28483482 NCBI Build 37.1 Human "6p22.1c,6p22.1" 6 0.32 0.33 0.48 0.48 Homo sapiens C__25964657_20 GPX5 A/G T47|T47 rs60523386 hCV25964657 Mis-sense Mutation|Mis-sense Mutation glutathione peroxidase 5 (epididymal androgen-related protein) NM_001509|NM_003996 CACCATCTATGACTATGAGGCCATC[A/G]CACTTAATAAGAATGAATATGTTTC 28497279 NCBI Build 37.1 Human "6p22.1c,6p22.1" 6 0 0.02 0 0 Homo sapiens C__25970125_10 GPX5 C/T P85| rs58554303 hCV25970125 Mis-sense Mutation|Intron glutathione peroxidase 5 (epididymal androgen-related protein) NM_001509|NM_003996 CCTCTAACTGCAGAACTAAATGCAC[C/T]CCAGGAGGAGCTGAAGCCCTATGGT 28499567 NCBI Build 37.1 Human "6p22.1c,6p22.1" 6 0.01 0 0 0 Homo sapiens C__31470561_10 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 A/T |||| PharmGKB:PA343 rs4987024 hCV31470561 |||| "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 ACACTTCTCCAGGTCACCACCCTGG[A/T]AGATCATGTCCAGAATCTGGCTTAC 28606960 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0.04 0 0 0.02 Homo sapiens C__31470558_50 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 C/G |||| PharmGKB:PA343 rs11569775 hCV31470558 |||UTR 5| "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 TGGTGCAGACCAGTGAAAGCACCCT[C/G]GTGGCGCGGGGCCCAGATGTCAGGG 28607526 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0.01 0.02 0 0 Homo sapiens C__26672303_10 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 C/G |||| PharmGKB:PA343 hCV26672303 |||| "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CCCCTCTCACAGCTCAGAGCGGAAG[C/G]TGAGGCTGCAGCCTGCCATCTTCTC 28617161 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0 0 0 0 Homo sapiens C__11896328_20 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 T/C K282|K282|K282|K282|K204 PharmGKB:PA343 rs36043491 hCV11896328 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CTGAGGCTGCAGCCTGCCATCTTCT[T/C]CGCATAGTCCGCATCGAAGCGCTCA 28617186 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0 0 0 0 Homo sapiens C__31470563_10 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 C/T S239|S239|S239|S239|S161 PharmGKB:PA343 rs60749306 hCV31470563 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 GAACTCCTGGGGGACGGTGGTGTAG[C/T]TGGTCATAGGGTTCTTCTTCATCTC 28617436 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0 0.02 0 0 Homo sapiens C__25971601_20 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 T/C K147|K147|K147|K147|K69 PharmGKB:PA343 rs1042005 hCV25971601 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CCCAGGTCCCAGGCTCAGGGTGCAC[T/C]TTGGCCATGTGGTAGAAGTGGTAGT 28618330 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0 0 0 0 Homo sapiens C__26672279_20 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 G/A V86|V86|V86|V86| PharmGKB:PA343 rs72547525 hCV26672279 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Intron "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 TCACACACCTGAGGGAATCCCTGGG[G/A]CTTTGAACTCAAGGAAGGGCACCCG 28619816 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0 0 0 0 Homo sapiens C__31470559_10 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 A/C |||| PharmGKB:PA343 rs60701883 hCV31470559 Intron|Intron|UTR 5|UTR 5|Intron "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 ATTCACCTGCGGAGCTGTTCAAAAT[A/C]CCAGGGCCTGGGCCATGGTGCAGAC 28620410 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0 0.01 0 0 Homo sapiens C__32348937_10 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 G/T |||| PharmGKB:PA343 rs4149381 hCV32348937 Intron|Intron|UTR 5|UTR 5|Intron "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CTGAGGAAGCTCTAGGACCTTCCTG[G/T]GCTGTCTCCCTGCCAGCCAGCGCCC 28620534 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0.02 0.06 0.17 0.21 Homo sapiens C___3051424_30 SULT1A1 PST|STP|STP1|P-PST|ST1A1|ST1A3|TSPST1|MGC5163|MGC131921|HAST1/HAST2|OK/SW-cl.88 T/C |||| PharmGKB:PA343 rs2077412 hCV3051424 UTR 5|UTR 5|||Intron "sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1" NM_001055|NM_177529|NM_177530|NM_177534|NM_177536 CGCCCGCAGTGGCTGATTGTGGGTG[T/C]TGTGTGGGGAATGCAGGGTTGTTCT 28621311 NCBI Build 37.1 Human "16p11.2e,16p11.2" 16 0.27 0.21 0.36 0.46 Homo sapiens C___7473918_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 C/T | rs7294 hCV7473918 UTR 3|UTR 3 "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 GGCACATTTGGTCCATTGTCATGTG[C/T]GGGTATGGCAGGAGGAGGGGGTAAT 31102321 NCBI Build 37.1 Human "16p11.2,16p11.2c" 16 0.34 0.49 0.09 0.12 Homo sapiens C__32316839_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/C | hCV32316839 | "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 GATACAAACAATGCAGAAATCATAG[A/C]GCACGAAGAACAGGATCCAGGCCAG 31102564 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0 0 0 0 Homo sapiens C__29057362_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/G L120|L83 rs7200749 hCV29057362 Silent Mutation|Mis-sense Mutation "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 AGCACGAAGAACAGGATCCAGGCCA[A/G]GTAGACAGAACCAGCGAGAGACACC 31102589 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0 0.21 0 0 Homo sapiens C__72649590_20 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 C/T M66| rs72547529 hCV72649590 Mis-sense Mutation|Intron "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 CTGTCCTGTCCCAGCACATGCTCCA[C/T]CAGCCCGAAACCCCTGCCCCACCTG 31104720 NCBI Build 37.1 Human "16p11.2,16p11.2c" 16 0 0 0 0 Homo sapiens C__30204875_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/G | rs9934438 hCV30204875 Intron|Intron "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 CCCCGACCTCCCATCCTAGTCCAAG[A/G]GTCGATGATCTCCTGGCACCGGGCA 31104878 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0.38 0.14 0.08 0.12 Homo sapiens C__16147492_20 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/C | rs2884737 hCV16147492 Intron|Intron "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 GCAGCCATCGCCAACACCCCCCTTC[A/C]CCTGCGCGCCGTCCTTGAGACCATC 31105554 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0.27 0.09 0 0 Homo sapiens C__32316837_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 C/T | hCV32316837 | "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 CACGCCTCCCACTCCCGTGCACACC[C/T]GGAGGAGAAGACGCGCGAACAGCTG 31105879 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0 0 0 0 Homo sapiens C__32928081_40 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/G | hCV32928081 | "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 GCGCGAACAGCTGATGGCGGTGCCC[A/G]CGTCGCAGAGCGCGCGGTAATCCCG 31105917 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0 0 0 0 Homo sapiens C__72649591_40 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/C | hCV72649591 | "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 ATGGCGGTGCCCACGTCGCAGAGCG[A/C]GCGGTAATCCCGGTCCCGGGCGCGC 31105930 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0 0 0 0.01 Homo sapiens C__32316836_10 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/C | hCV32316836 | "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 CGGTCCCGGGCGCGCGCCGCCTTCA[A/C]GTGCAGCGCGTAGAGCGAGAGCACT 31105966 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0 0 0 0 Homo sapiens C__30403261_20 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 C/T | rs9923231 hCV30403261 | "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 GATTATAGGCGTGAGCCACCGCACC[C/T]GGCCAATGGTTGTTTTTCAGGTCTT 31107689 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0.38 0.15 0.09 0.13 Homo sapiens C__30996661_30 VKORC1 VKOR|MST134|MST576|VKCFD2|EDTP308|MGC2694|FLJ00289|IMAGE3455200|MSTP134 A/G | rs7196161 hCV30996661 | "vitamin K epoxide reductase complex, subunit 1" NM_024006|NM_206824 TCTCAAACTCCTGACCTCATGATCC[A/G]CCCTCCTTGGCTTCCTAAAGTGCTG 31110981 NCBI Build 37.1 Human "16p11.2c,16p11.2" 16 0.39 0.4 0.09 0.14 Homo sapiens C___2384441_30 XDH XO|XOR C/T E1239 PharmGKB:PA37404 rs207440 hCV2384441 Silent Mutation xanthine dehydrogenase NM_000379 AGTCGCGGAGCAGGGACACCCTGAA[C/T]TCAATGGGGATGCTGCCAAATGCCG 31562412 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0.06 0.03 0.01 0 Homo sapiens C___8899071_30 XDH XO|XOR C/G R1150 PharmGKB:PA37404 rs1042036 hCV8899071 Mis-sense Mutation xanthine dehydrogenase NM_000379 CACCCCATAGCTGAAGTAGTGGAAG[C/G]GGTTCCCTGAGTTAGTCTCAAAGCT 31565119 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0 0 0 Homo sapiens C__25767468_20 XDH XO|XOR C/G L1091 PharmGKB:PA37404 rs45619033 hCV25767468 Mis-sense Mutation xanthine dehydrogenase NM_000379 GGATCCCATGGGCTCCTTACATAGA[C/G]GGCCTGTCCATTGAGGTCAGCGCTG 31570393 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0.01 0 0 Homo sapiens C__25603350_30 XDH XO|XOR A/G PharmGKB:PA37404 rs45604135 hCV25603350 xanthine dehydrogenase NM_000379 TCCCCCCGTGGGTCAGCAGCACAGA[A/G]CCATCTGTGTACACATGAAGTAGGG 31571197 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0.06 0 0 Homo sapiens C___3279863_30 XDH XO|XOR A/G F1010 PharmGKB:PA37404 rs1884725 hCV3279863 Silent Mutation xanthine dehydrogenase NM_000379 TTACCTGATTCAGAAAAGGAACTGT[A/G]AAGCTTATTCCAAACTTGGTGGGAA 31571786 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0.23 0.2 0.12 0.23 Homo sapiens C__25473873_30 XDH XO|XOR A/G I737 PharmGKB:PA37404 rs2295475 hCV25473873 Silent Mutation xanthine dehydrogenase NM_000379 CCAGGTAGAAGTGCTCTTGGCCACC[A/G]ATGTATATCTCCCCTGGGGAAGCAG 31589847 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0.31 0.11 0.44 0.4 Homo sapiens C__33207621_10 XDH XO|XOR A/T X722 PharmGKB:PA37404 rs72549367 hCV33207621 Nonsense Mutation xanthine dehydrogenase NM_000379 ACATTATCTGCTTCGGAAAACCCCT[A/T]CTTTAGGTCCCCTTTCTCGATCTTC 31590860 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0 0 0 Homo sapiens C__25472962_20 XDH XO|XOR C/T V703 PharmGKB:PA37404 rs17011368 hCV25472962 Mis-sense Mutation xanthine dehydrogenase NM_000379 GGTCCATAAAAGGAGTTGTTCTTTA[C/T]AGCATCCTGAGGATCACAAAGAAGT 31590917 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0.05 0.12 0 0 Homo sapiens C__25603303_20 XDH XO|XOR C/T V646 PharmGKB:PA37404 rs17323225 hCV25603303 Mis-sense Mutation xanthine dehydrogenase NM_000379 GTCTCATCATTACAAATTCCAGTTA[C/T]GTTACTCCCAGGAACATCATCAGCG 31593265 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0.05 0 0 0 Homo sapiens C__25603302_20 XDH XO|XOR C/T X601QXQ PharmGKB:PA37404 rs61731081 hCV25603302 Nonsense Mutation xanthine dehydrogenase NM_000379 ACCAGCCGGAGAGACAGCTCATTCT[C/T]GTAGCGAGGAATGTCGTCACAGTAC 31595149 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0 0 0 Homo sapiens C__25603286_20 XDH XO|XOR A/G E534E PharmGKB:PA37404 rs61731080 hCV25603286 Mis-sense Mutation xanthine dehydrogenase NM_000379 CTGTGCCTGGCCAGGCCCCACTCAC[A/G]TCTTCCAGGTTCTCTTGGCCCAGCT 31598246 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0 0 0 Homo sapiens C__25603283_20 XDH XO|XOR C/T K443 PharmGKB:PA37404 rs45471294 hCV25603283 Silent Mutation xanthine dehydrogenase NM_000379 GCTCCTGTACCTCTGTGGTTCCTGG[C/T]TTGAATAAAACTCTCATGCCACTGG 31600017 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0.02 0.01 0 0 Homo sapiens C__25603274_20 XDH XO|XOR A/T M395 PharmGKB:PA37404 rs34929837 hCV25603274 Mis-sense Mutation xanthine dehydrogenase NM_000379 TATCTCCTCCGGGCTCAGCAGGGTC[A/T]TTCTGTAGCCAGGGAAGAAGGTGTG 31602791 NCBI Build 37.1 Human "2p23.1,2p23.1a" 2 0 0.06 0 0 Homo sapiens C__25603275_20 XDH XO|XOR A/G PharmGKB:PA37404 rs45612738 hCV25603275 xanthine dehydrogenase NM_000379 GGTCCATCTGGACAGTTCTCCTGGT[A/G]CCTGTACAGAAGCAAGATGAAGAGG 31602841 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0.06 0 0 Homo sapiens C__27930724_30 XDH XO|XOR A/G V279 PharmGKB:PA37404 rs4407290 hCV27930724 Silent Mutation xanthine dehydrogenase NM_000379 TCAGCTCAGGGATCCAGGCTGGGCA[A/G]ACAATCATAGGAAACAGCATATTCT 31606670 NCBI Build 37.1 Human "2p23.1,2p23.1a" 2 0.02 0.01 0.05 0.05 Homo sapiens C___8899082_20 XDH XO|XOR A/T H191 PharmGKB:PA37404 rs1126469 hCV8899082 Mis-sense Mutation xanthine dehydrogenase NM_000379 CTCTGGTTTGAATAAAGATGGCGAG[A/T]GGCTGACCTATGGGGAAAGAGAACA 31610756 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0 0 0 Homo sapiens C__27864285_10 XDH XO|XOR A/G C149 PharmGKB:PA37404 rs72549369 hCV27864285 Mis-sense Mutation xanthine dehydrogenase NM_000379 AGGATGGGTCTGTAGCCTGTGCAGC[A/G]GCACAGATTTCCTGTGGGCCAAGGA 31620584 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0 0 0 Homo sapiens C__25603304_20 XDH XO|XOR C/G PharmGKB:PA37404 rs36208390 hCV25603304 UTR 5 xanthine dehydrogenase NM_000379 CTAAGAGACACTGGCAGGTAGTTAT[C/G]ACTGCTCTGTGACCTGAAAGTTACG 31637598 NCBI Build 37.1 Human "2p23.1a,2p23.1" 2 0 0.03 0 0 Homo sapiens C__32402004_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*85,c.56G>A|CYP21A2*85,g.56G>A" A/G | hCV32402004 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CTGCTGGCTGGCGCCCGCCTGCTGT[A/G]GAACTGGTGGAAGCTCCGGAGCCTC 32006258 NCBI Build 37.1 Human "6p21.33,6p21.33a" 6 0 0 0 0 Homo sapiens C__27861789_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*30,c.66G>A|CYP21A2*30,g.66G>A" A/G X23|X23 rs72552744 hCV27861789 Nonsense Mutation|Nonsense Mutation "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 GCGCCCGCCTGCTGTGGAACTGGTG[A/G]AAGCTCCGGAGCCTCCACCTCCCGC 32006268 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__25652185_30 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*75,c.185A>T|CYP21A2*75,g.185A>T|CYP21A2*91,c.185A>T|CYP21A2*91,g.185A>T" A/T | hCV25652185 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 AAATTCGGGCCCATCTACAGGCTCC[A/T]CCTTGGGCTGCAAGGTGAGAGGCTG 32006387 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0.08 0.04 0.11 0.17 Homo sapiens C__27861790_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*47,c.191G>A|CYP21A2*47,g.191G>A" A/G | hCV27861790 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 GGGCCCATCTACAGGCTCCACCTTG[A/G]GCTGCAAGGTGAGAGGCTGATCTCG 32006393 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__34816154_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*31,g.295A>G" A/G | hCV34816154 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 GCTGACGCTGCTTTGGCTGTCTCCC[A/G]GATGTGGTGGTGCTGAACTCCAAGA 32006497 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__27861791_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*50,c.220A>T|CYP21A2*50,g.317A>T" A/T | hCV27861791 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CCCAGATGTGGTGGTGCTGAACTCC[A/T]AGAGGACCATTGAGGAAGCCATGGT 32006519 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__34816155_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*94,c.230T>C|CYP21A2*94,g.327T>C" C/T | hCV34816155 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 GTGGTGCTGAACTCCAAGAGGACCA[C/T]TGAGGAAGCCATGGTCAAAAAGTGG 32006529 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__34651578_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*51,g.366G>T" G/T | hCV34651578 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 GTCAAAAAGTGGGCAGACTTTGCTG[G/T]CAGACCTGAGCCACTTACCTGTAAG 32006568 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C___7481425_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*3,c.305G>A|CYP21A2*3,g.683A>G" A/G | rs6474 hCV7481425 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CCTCCTGCAGACAAGCTGGTGTCTA[A/G]GAACTACCCGGACCTGTCCTTGGGA 32006886 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0.31 0.05 0.35 0.2 Homo sapiens C__32402006_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*84,c.371G>A|CYP21A2*84,g.749G>A" A/G H125|H95 rs72552750 hCV32402006 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 TGGAAAGCCCACAAGAAGCTCACCC[A/G]CTCAGCCCTGCTGCTGGGCATCCGT 32006952 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__27861793_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*52,c.533G>C" C/G A179|A149 rs72552751 hCV27861793 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 AGCATCATCTGTTACCTCACCTTCG[C/G]AGACAAGATCAAGGTGCCTCACAGC 32007221 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C____598880_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*21,c.631G>C|CYP21A2*21,g.1203G>C" A/G | hCV598880 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CCACTGGTCCATCCAAATTGTGGAC[A/G]TGATTCCCTTTCTCAGGGTGAGGAC 32007407 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0.08 0.09 0 0 Homo sapiens C__11917777_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 C/T L227|L197 rs6457 hCV11917777 Silent Mutation|Silent Mutation "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CTTCCCCAATCCAGGTCTCCGGAGG[C/T]TGAAGCAGGCCATAGAGAAGAGGGA 32007553 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__34651582_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*90,c.682C>T|CYP21A2*90,g.1355C>T" C/T X229|X199 rs72552752 hCV34651582 Nonsense Mutation|Nonsense Mutation "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CAATCCAGGTCTCCGGAGGCTGAAG[C/T]AGGCCATAGAGAAGAGGGATCACAT 32007559 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__34816162_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*43,g.1780T>G" G/T | rs72552753 hCV34816162 Intron|Intron "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 GTTTTTTTGCTTCACCACCCTGAGG[G/T]GCGTCCTGGGGACAAGCAAAAGGCT 32007984 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C____598868_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*24,c.1016G>A|CYP21A2*24,g.2058G>A" A/G | hCV598868 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 AGCTCCCGGGTCCCCTACAAGGACC[A/G]TGCACGGCTGCCCTTGCTCAATGCC 32008262 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C____598867_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*29,c.1021C>T|CYP21A2*29,g.2063C>T" C/T | hCV598867 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CCGGGTCCCCTACAAGGACCGTGCA[C/T]GGCTGCCCTTGCTCAATGCCACCAT 32008267 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C____598861_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*35,c.1140G>C|CYP21A2*35,g.2265G>C" C/G | hCV598861 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 GCATCTCCGGCTACGACATCCCTGA[C/G]GGCACAGTCATCATTCCGAACCTCC 32008469 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__27859810_10 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*73,c.1222C>T" C/T | hCV27859810 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CCCACCTGTCCACCCGCCCGCAGAT[C/T]GCTTCCTGGAGCCAGGCAAGAACTC 32008648 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C____598859_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 "CYP21A2*55,c.1270G>A|CYP21A2*56,c.1270G>A" A/G | hCV598859 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CTCCAGAGCTCTGGCCTTCGGCTGC[A/G]GTGCCCGCGTGTGCCTGGGCGAGCC 32008696 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0 0 0 Homo sapiens C__25652175_20 CYP21A2 CAH1|CPS1|CA21H|CYP21|CYP21B|P450c21B|MGC150536|MGC150537|DADB-112B14.10-001 C/T | hCV25652175 | "cytochrome P450, family 21, subfamily A, polypeptide 2" NM_000500|NM_001128590 CTTCGGCTGCGGTGCCCGCGTGTGC[C/T]TGGGCGAGCCGCTGGCGCGCCTGGA 32008711 NCBI Build 37.1 Human "6p21.33a,6p21.33" 6 0 0.01 0 0 Homo sapiens C__34171660_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 A/G |F647 rs16870908 hCV34171660 |Mis-sense Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 ATTCAAAATATCATGAACTTCCAAA[A/G]GGTTTTCTAGAAAAAAAAAACAAAA 32790089 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.02 0.22 0.02 0.01 Homo sapiens C___2961793_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 A/G | rs241448 hCV2961793 | "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CGGGAATAGAGGTCCTGTCCCTCCT[A/G]GAGCTGGGCAAGCTTCTGCAGCTTG 32796685 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.34 0.16 0.44 0.22 Homo sapiens C__30159972_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 A/G C651| rs4148876 hCV30159972 Mis-sense Mutation|Intron "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 ATCACCAGCACTGTGCGATCCCCAC[A/G]GGAATTCCAGTCCTGCAGCTGAAGG 32796793 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.03 0.02 0.13 0.01 Homo sapiens C____531904_30 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T G604|G604 rs241441 hCV531904 Silent Mutation|Silent Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 GTTTCTGTCCCGCAGCCAGCTGGCT[C/T]CCCTTCTCCCCTACATCTGAGGAAA 32797297 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.32 0.16 0.44 0.22 Homo sapiens C__16171099_40 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T V577|V577 rs2228391 hCV16171099 Mis-sense Mutation|Mis-sense Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 GCGTGGGCAGCCTGGGCAGCCGCCA[C/T]CACCTTATCATCTTCGCAGCTCTGC 32797773 NCBI Build 37.1 Human "6p21.32,6p21.32b" 6 0 0 0.13 0.08 Homo sapiens C___8848952_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T G573|G573 rs1800573 hCV8848952 Mis-sense Mutation|Mis-sense Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CTGGGCAGCCGCCATCACCTTATCA[C/T]CTTCGCAGCTCTGCAGCCCATAAGC 32797784 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0 0 0 Homo sapiens C___8848953_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T V554|V554 rs1801283 hCV8848953 Silent Mutation|Silent Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 TGTTCCTCACAGAACCGGAGAACAG[C/T]ACAGGCTCCTGCCCAACTGAAACCA 32797840 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0 0 0 Homo sapiens C__25650975_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T H551H|H551H rs61736924 hCV25650975 Mis-sense Mutation|Mis-sense Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CAGAACCGGAGAACAGCACAGGCTC[C/T]TGCCCAACTGAAACCACCTGTGCAG 32797849 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0 0 0 Homo sapiens C__34171706_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 -/C | hCV34171706 | "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CCTTGAGCACAGGCCTGTCAGGGCG[-/C]ATTGGGATATGCAAAGGAGACGTCT 32798419 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0 0 0 Homo sapiens C__11917123_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 A/G | rs1042116 hCV11917123 | "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 AGAAAACCTTCTCTGCAGCTCCCAC[A/G]TTGCTGAGCATATCCCCATATATGT 32798548 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.11 0.01 0.09 0 Homo sapiens C__16076333_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T V387|V387 rs2856992 hCV16076333 Silent Mutation|Silent Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 GCCCACAGCTCAGCATCAGCATCTG[C/T]ACCCCCAAGTGCAGCACCTGGAAGA 32800221 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.01 0.04 0 0 Homo sapiens C___2961788_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 A/C G386|G386 rs2228397 hCV2961788 Silent Mutation|Silent Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CACAGCTCAGCATCAGCATCTGCAC[A/C]CCCAAGTGCAGCACCTGGAAGAGGA 32800224 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.15 0.22 0.36 0.16 Homo sapiens C___8848961_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T I379|I379 rs1800454 hCV8848961 Mis-sense Mutation|Mis-sense Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CCACTCTGGTATCTTACCCTCCTTA[C/T]GAGCAGGTACAAGGCGCGTTCCAGG 32800412 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0.19 0.14 0.16 0.27 Homo sapiens C__25650957_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/G G273|G273 rs61736923 hCV25650957 Mis-sense Mutation|Mis-sense Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 AGCCCCACCACTTTCACCAGGCTTC[C/G]CAAGAGCACATTGGCATTTAAAGGA 32803059 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0 0 0 Homo sapiens C__29636659_10 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 A/G | hCV29636659 | "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 TGCTCCCGGATCCGCAAGTTGATTC[A/G]AGACATGGTGTAGGTGAAGCAGCCT 32803501 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0 0 0 Homo sapiens C__16172441_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 G/T P74|P74 rs2229526 hCV16172441 Silent Mutation|Silent Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CCAGGGCTCTCAGGGAGACAGTCAG[G/T]GGGGTGGCCAGACAGAGCGGGAGCA 32805789 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0.02 0 0 Homo sapiens C__16171098_20 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 C/T L55|L55 rs2228393 hCV16171098 Silent Mutation|Silent Mutation "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 TCCCCACAAATCCCAGCAGCCCTCT[C/T]AGCTTTAGCAGCCCCCACAGCCCTC 32805846 NCBI Build 37.1 Human "6p21.32b,6p21.32" 6 0 0 0 0 Homo sapiens C___2961775_30 TAP2 APT2|PSF2|ABC18|ABCB3|RING11|D6S217E|DAAP-57C1.2 A/G | rs2071552 hCV2961775 UTR 5|UTR 5 "transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000544|NM_018833 CGGCGGGGAGACCGCAGCTCCGGGG[A/G]CTTCTGCTTCAGCGCTGAGGTCCGC 32806461 NCBI Build 37.1 Human "6p21.32,6p21.32a" 6 0.48 0.4 0.32 0.37 Homo sapiens C__15746821_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/T P721 PharmGKB:PA35021 rs41551515 hCV15746821 Silent Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 TGGCATCATCCAGGATAAGTACACA[C/T]GGTTTCCGGATCAATGCTCGGGCCA 32814902 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.01 0.04 0 0 Homo sapiens C__11917381_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/T Q708 PharmGKB:PA35021 rs1057149 hCV11917381 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 TGCTCGGGCCAACGCCACTGCCTGT[C/T]GCTGACCCCCTGACAGCTGGCTCCC 32814942 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.03 0.07 0 0 Homo sapiens C____531909_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/T G697 PharmGKB:PA35021 rs1135216 hCV531909 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 CCCTGACAGCTGGCTCCCAGCCTCG[C/T]CTACCTCTGCAGAGCAAAGGGCCAA 32814975 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.08 0.17 0.09 0.16 Homo sapiens C__25630686_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/T I578 PharmGKB:PA35021 rs41561219 hCV25630686 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 GTAGGTTGTACCTGTAGCACTAAGA[C/T]ATCTGGGCGGTTTGGGTAGGCAAAG 32816443 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.01 0.04 0 0 Homo sapiens C__15746885_10 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 A/C L518 PharmGKB:PA35021 rs41550019 hCV15746885 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 TGAAGGTGGAGGGACCTCACCTCCA[A/C]AGCCTGGGTGAACTGCATCTGGTAG 32816772 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.03 0.07 0 0 Homo sapiens C__16170593_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 A/C C479 PharmGKB:PA35021 rs2228110 hCV16170593 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 AGGATTCCCACTTTCAGCAGCATAC[A/C]TGAAATCTATAAAGAGACCACAAAA 32816889 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0 0.03 0 0 Homo sapiens C__15746839_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 A/G V430 PharmGKB:PA35021 rs2127679 hCV15746839 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 TCGAACTGTAGGCATGGCCGACAGA[A/G]CCTCAATGGCCACCTGGCTGGACTT 32818236 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.01 0.04 0 0 Homo sapiens C____549926_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/T V393 PharmGKB:PA35021 rs1057141 hCV549926 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 AGAAGGAAAAGCAGAGGCAGGGTGA[C/T]CAGGGTGACCATGGTGAGGGACACT 32818774 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.16 0.17 0.09 0.28 Homo sapiens C__15746837_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 A/G F346 PharmGKB:PA35021 rs2228111 hCV15746837 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 GGTGGACGTGTCCTCTGTTACCCGA[A/G]ACATGATGTTACCTGCAGGGTTGGG 32818914 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0 0.04 0 0 Homo sapiens C__15746834_30 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 A/G G314 PharmGKB:PA35021 rs41549617 hCV15746834 Silent Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 CTCCCTGCAAGTGGCTGTGCACGTG[A/G]CCCATGGTGTTGTTATAGATCCCGT 32819968 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.01 0.04 0 0 Homo sapiens C__15746833_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/T R307 PharmGKB:PA35021 rs59328013 hCV15746833 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 TGGCCCATGGTGTTGTTATAGATCC[C/T]GTCACCCACGAACTCCAGCACTGCA 32819991 NCBI Build 37.1 Human "6p21.32,6p21.32a" 6 0 0.01 0 0 Homo sapiens C__15746828_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 A/C L304 PharmGKB:PA35021 rs36229525 hCV15746828 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 GTGTTGTTATAGATCCCGTCACCCA[A/C]GAACTCCAGCACTGCACTATAAAGA 32820000 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0 0.04 0 0 Homo sapiens C__27840978_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/G L256 PharmGKB:PA35021 rs2228109 hCV27840978 Silent Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 CTGCGTTCCCCTTACCAAGAGAGGA[C/G]AGGACCACCAGGACCAGGAACAGCG 32820826 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0 0 0 0 Homo sapiens C__27852791_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 A/G V201 PharmGKB:PA35021 rs55702652 hCV27852791 Silent Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 CGGGCAGTGCCGCTGCATAACTGAC[A/G]ACGAAGGCGGTAGGGTGACTTCCCC 32820991 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.01 0.04 0 0 Homo sapiens C__27015223_10 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/G V170 PharmGKB:PA35021 rs2228108 hCV27015223 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 GAGATCAGCTCTCGGAACAAGGCAA[C/G]TCCCGGCAGGGCCAAGCCCAGTGCC 32821086 NCBI Build 37.1 Human "6p21.32,6p21.32a" 6 0 0 0 0 Homo sapiens C__15746883_10 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/G R77 PharmGKB:PA35021 rs57640466 hCV15746883 Mis-sense Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 GTCCCCAGCCATGCGAGAGAAGCTC[C/G]GGGGAGGCAGCGGCACCCGCGGGGA 32821365 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0 0.03 0 0 Homo sapiens C___9785786_20 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 C/T R49 PharmGKB:PA35021 rs2071536 hCV9785786 Silent Mutation "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 GGACGCCGTCCCGGTCCCGGCCGGG[C/T]CTGGGACTCTCCGCGCCCCGGTGGG 32821447 NCBI Build 37.1 Human "6p21.32a,6p21.32" 6 0.09 0.02 0.05 0.03 Homo sapiens C__34171753_10 TAP1 APT1|PSF1|ABC17|ABCB2|RING4|TAP1N|D6S114E|FLJ26666|FLJ41500|TAP1*0102N|DAAP-57C1.5 -/G PharmGKB:PA35021 rs3216794 hCV34171753 UTR 5 "transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)" NM_000593 CGTGGAAATCAGATCTGAGAATCTC[-/G]GGAGCAGCCCTGGTGCCCAATTTTC 32821709 NCBI Build 37.1 Human "6p21.32,6p21.32a" 6 0 0 0.09 0.08 Homo sapiens C__27504423_20 CHST8 GalNAc4ST|GALNAC4ST1 C/T || rs3810364 hCV27504423 Intron|Intron|UTR 5 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_001127895|NM_001127896|NM_022467 ACAAAACAGAAGGAGGTGGTGCTCT[C/T]GGGGGACTGGGCTGTAGGCTCCCAC 34175603 NCBI Build 37.1 Human "19q13.11b,19q13.11" 19 0 0 0.1 0 Homo sapiens C__33633222_10 CHST8 GalNAc4ST|GALNAC4ST1 -/C || rs72552279 hCV33633222 Intron|Intron|UTR 5 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_001127895|NM_001127896|NM_022467 GAAGCAGCTGCAGCCAAGCGTGTCC[-/C]TTGGAGCCGTCCATGCGTCTGTCCG 34176058 NCBI Build 37.1 Human "19q13.11b,19q13.11" 19 0 0 0 0 Homo sapiens C__33633218_10 CHST8 GalNAc4ST|GALNAC4ST1 -/C || hCV33633218 || carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_001127895|NM_001127896|NM_022467 CTCCTCTTCATCAGCCTGCAGGACC[-/C]TACGGAGCTCGCCCCCCAGCAGGTG 34180268 NCBI Build 37.1 Human "19q13.11b,19q13.11" 19 0 0 0 0 Homo sapiens C__25927055_20 CHST8 GalNAc4ST|GALNAC4ST1 A/G K234|K234|K234 rs57474890 hCV25927055 Silent Mutation|Silent Mutation|Silent Mutation carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_001127895|NM_001127896|NM_022467 CCGTCCACTATGGCAGCGCTCTCAA[A/G]CGCCTGGACACCTTCGACCGCCAGG 34263395 NCBI Build 37.1 Human "19q13.11b,19q13.11" 19 0 0.02 0 0 Homo sapiens C___7613022_20 CHST8 GalNAc4ST|GALNAC4ST1 A/G || rs1064349 hCV7613022 UTR 3|UTR 3|UTR 3 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 NM_001127895|NM_001127896|NM_022467 ACCACGTGGTTTGCAGCTTTTCTAC[A/G]AGCCAGGGGGGAGGTTCCCTTGGAT 34264354 NCBI Build 37.1 Human "19q13.11b,19q13.11" 19 0.09 0.14 0.03 0.02 Homo sapiens C__32201677_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/G |||| rs11571502 hCV32201677 ||||UTR 5 peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GTTTTGGCAGGAGCGGGAGAATTCT[C/G]CGGAGCCTGCGGGACGGCGGCGGTG 35310411 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.02 0.01 0 0 Homo sapiens C__29712728_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs9658058 hCV29712728 ||||UTR 5 peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TTCTGCGGAGCCTGCGGGACGGCGG[C/T]GGTGGCGCCGTAGGCAGCCGGGACA 35310432 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0.03 0.2 0 0 Homo sapiens C__29416089_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs6919734 hCV29416089 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TTTCTTTGTTCTTTTCTGAATCTAG[A/G]GAATCCAAATTGTCCCTCTTTTTCC 35311988 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.09 0 0 Homo sapiens C__15872743_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs2267664 hCV15872743 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GTGTCTGGATGTTTAACCTTACCAA[A/G]CAGAAGATTCTCGTCATATCCTTCA 35312254 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.02 0.02 0.3 0.41 Homo sapiens C__29416090_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs6920146 hCV29416090 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TAACCTTACCAAGCAGAAGATTCTC[A/G]TCATATCCTTCAGTTTGAGCTCCTT 35312267 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.13 0 0 Homo sapiens C__30613814_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs9658070 hCV30613814 ||||UTR 5 peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GTGTTGTACAGTGTTTTGGGCATGC[A/C]CGTGATACTCACACAGTGGCTTCTG 35314868 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__30634155_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs6457813 hCV30634155 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGTTTTAATAAAGTTTACGTATTTG[C/T]GTTGGGATGCATTCAGAGCTCTCCT 35317301 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0 0.2 0.01 0.05 Homo sapiens C__30634157_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs4713851 hCV30634157 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 ACTTTTTGGCCTCAAGATCCCTTTA[A/G]ATTCTTTTTTTGTTTGTTTGTTTGT 35318784 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__30634161_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs6937510 hCV30634161 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TCCTTGGAGACCAGCTACTACTTTT[C/T]AGCATCCTTATGTGAGGTAATGTGG 35320811 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.13 0 0 Homo sapiens C__30634162_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs7744392 hCV30634162 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AGCCTTCATTTTCTTCCCTGTGAGG[A/G]TTAAAATGAACCTCAGGAAATGCTG 35322763 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.03 0.26 0 0 Homo sapiens C__30634163_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 G/A |||| rs7758272 hCV30634163 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GCAGCACCCCATTTTTTTTTCATTG[G/A]AGTCCTGTCTTCCAGCCAGGCACAG 35322975 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.04 0.27 0 0 Homo sapiens C__29416091_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs7746988 hCV29416091 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GTTTACAATTAACAGCATATTCCAA[C/T]GAAGAAAGAAAGCATATGATGTCTG 35324741 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.01 0.32 0.01 0.05 Homo sapiens C__28003714_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs4278009 hCV28003714 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CACTTCTTTCATGTGGACCAGGGAT[C/T]TGAACTGTGTTTCTTCCAAACTTTT 35325718 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0 0 0 0 Homo sapiens C___2489298_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs6901410 hCV2489298 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGTGTCTGCTTGTCCTCCGACCTCC[C/T]CTCCCATTTGTGGGAAAGGCATTTG 35330030 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0.07 0.33 0.01 0.02 Homo sapiens C___2489295_40 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs6902123 hCV2489295 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CTGAGAGGAGGGCCTGGGTCCCTGG[C/T]GCTGTCTTGAGTCAGTGAGAAGAAG 35330421 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0.08 0.33 0.01 0.05 Homo sapiens C____333963_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs6457815 hCV333963 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGAGAAAATTGAAGATGGGGTATTT[C/T]GTGGGGAACAAGCTATGCCTTCCTG 35330898 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.07 0.47 0 0 Homo sapiens C__29416092_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs7757196 hCV29416092 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGATTGATGAGGAAACTAAGGCTCA[A/G]AAAAATCCATTTGCTCAAGGAGAAA 35335290 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.02 0 0 Homo sapiens C__29416093_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 G/T |||| rs7754530 hCV29416093 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TTGGGAATTGATGCTGTCTGTGTCC[G/T]GACCCTGTCTGTGGGCCAGGAAGGG 35337958 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.06 0 0 Homo sapiens C__29416094_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/G |||| rs7772754 hCV29416094 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AAGGCTGCATCGTGTTGTCTGGCCA[C/G]TTCCTCTATTGTGTGCAGGCATGTT 35338106 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.01 0 0 Homo sapiens C__29416095_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/G |||| rs6913026 hCV29416095 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGGTGAAAGTGGCCCAGCTAGTTCC[C/G]TGGAGCCCTTTTATAAGAGCACTAA 35340894 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.06 0 0 Homo sapiens C__29416096_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 G/T |||| rs7750906 hCV29416096 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TTAAGTTTCAACATGAATTTTGGAG[G/T]GTTCACAACATTCAAACCATAGCAA 35341021 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.13 0 0 Homo sapiens C__30073543_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs6919334 hCV30073543 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CCTCTGGCTCCTGACCTCTGCTGCT[A/G]GTGAATCTGTTTCTCCTATGGCTGC 35341875 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0.07 0.32 0.01 0.05 Homo sapiens C__29416097_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs7770619 hCV29416097 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGAGAGCATTCGTTCCTGGACATGC[C/T]GTGGCACTGCCAGGAGACTTTACTC 35350042 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.06 0.22 0 0 Homo sapiens C__30634166_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs6937483 hCV30634166 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AGCCCACTGGGCAGCGACTGCACCC[A/G]TATCAGAGTGTGGAAAGCCTTGGAT 35350759 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.06 0 0 Homo sapiens C__29495551_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs7763692 hCV29495551 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AATTTTTTTTTTTTTTTTTTTTTTT[C/T]AGTGAGCCAGGTGTGGCAGTACACA 35354116 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.07 0.33 0.01 0.05 Homo sapiens C__11407083_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs3777744 hCV11407083 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGTGGGCAGCACGTGCCGCGGGGGC[A/G]GGAAGGGGAGAGCTTCCGGGAAGGG 35356143 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.09 0.31 0.31 0.42 Homo sapiens C__27517979_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/G |||| rs3798343 hCV27517979 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GAAGGGCCCTGGTGACTTTCTTTGC[C/G]CCTCTCCACTCTTACAGTCATTGGA 35357693 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.02 0.17 0.31 0.39 Homo sapiens C__30634167_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs6910489 hCV30634167 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GAAAAAAAGATGTAACATTAAATGC[A/G]TGGTTTGGTGGTTTGGTTGGGCACA 35358503 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.12 0 0 Homo sapiens C__30634168_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs6915115 hCV30634168 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TATAGACATCTGATAATAGAAAATG[C/T]GGAAGAGAGCATTAACACAAAATGA 35358945 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.11 0 0 Homo sapiens C__15753412_60 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs2299866 hCV15753412 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GCCCTGCCCTTGTCCTTATGCCAAG[A/C]TGCCTCCTTTGTGAGGCAGCTGGTT 35359710 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__15753402_70 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs2299867 hCV15753402 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CATCTGGACTGCCCTTGGAATTCCT[A/G]GGCCAATTTGGGGAACCCTGGCACC 35359874 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__30634169_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs7769719 hCV30634169 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 ATCATGCCACTGTACTCCAACCTAC[A/G]TGACAGAGTGAGACCCTGTCTCCCC 35362525 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.06 0.38 0 0 Homo sapiens C__34651907_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs17847865 hCV34651907 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGTCAGATACCCCTGGAAAACTGAA[A/G]CCCGTGGAGCAGTGATCTCTACAGG 35365334 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0.01 0 Homo sapiens C__11916503_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs1883323 hCV11916503 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CTGGAAAACTGAAGCCCGTGGAGCA[A/G]TGATCTCTACAGGACTGCTTCAAGG 35365346 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0.05 0 0 0 Homo sapiens C__15960535_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs2284197 hCV15960535 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TATGTGAATCTAACAACAGACAAAA[A/G]TCTCTGCCTCCTGGGGCTTATATTC 35365457 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.02 0.01 0.04 Homo sapiens C__11916500_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs1883322 hCV11916500 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TCAGTAGGAGAGATCTGGGTCTCTT[C/T]TGGGACCTGAGCAGGCCTTTCCTTT 35369806 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.26 0.4 0.2 0.31 Homo sapiens C__11916499_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs1883321 hCV11916499 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGACCTGAGCAGGCCTTTCCTTTAC[C/T]TCGTTGGCATCTCTCAGCATTTTAT 35369834 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0.03 0 0 Homo sapiens C__15872730_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/G |||| rs2267667 hCV15872730 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GGGCCCCAGGTGGCTTAGTTGCTCT[C/G]GCCCCAGACCAGGTCTCTCTAGAGC 35372524 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.22 0.37 0.19 0.31 Homo sapiens C___2489281_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs2038068 hCV2489281 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGGGAACTAGAGACCCTGGTCCCAA[A/G]TTCAGAACTCTAGCCAGAGTCCAGA 35374461 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.27 0.43 0.2 0.31 Homo sapiens C___2489280_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs2038067 hCV2489280 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 ACTAGAGACCCTGGTCCCAAATTCA[A/G]AACTCTAGCCAGAGTCCAGAACTGC 35374466 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0.2 0.12 0.18 0.27 Homo sapiens C__30451673_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs6906237 hCV30451673 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GCTAAAATTAGTTTCCTCTCCATGC[A/C]GAGTCTGAATATATTATAAAAATAA 35375526 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.05 0.45 0.01 0.04 Homo sapiens C__29416103_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs6911817 hCV29416103 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGGGTCTGGTGCTTCTCAAGTTTAA[C/T]ACCCAGGGGCGAGTGGTCAGGGACT 35376287 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.01 0.26 0 0 Homo sapiens C__28025587_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs4388282 hCV28025587 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 ACTGATGTACATTAAACAAACTATC[A/C]AGTCCCTGCAATGCAGTGTAAATGA 35376350 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__28003715_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs4555908 hCV28003715 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AAAGAGCCTGCAGGGGAGAAACTGC[A/C]ACTAGTGGAGACCATGCGAGTGGGC 35376403 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__27891379_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs4587165 hCV27891379 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGGTACAATACTATTAACCAAAGTC[A/C]GTGTGTTGTTCAGACCTTACCAGTT 35376679 NCBI Build 37.1 Human "6p21.31,6p21.31c" 6 0 0 0 0 Homo sapiens C__28025588_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs4360132 hCV28025588 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TTCAGACCTTACCAGTTTTTCTGCC[A/C]CTGCCCCCTTTCTGCTTCGGGGATC 35376713 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__15872729_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs2267668 hCV15872729 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AGTTTGAGCTGTCGGTAAAATATCT[A/G]AGAGTTGGGGTCCCACAGATGCTTA 35377922 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.19 0.12 0.17 0.27 Homo sapiens C__15872728_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs2267669 hCV15872728 ||||Intron peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CTGTCTCCTCCTGGGTGATGTGGAC[A/G]TGGCATCACCACCCAGTAAGTTGTC 35378124 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.18 0.12 0.17 0.27 Homo sapiens C___8851952_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs2016520 hCV8851952 ||||UTR 5 peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CCTCTGCCCAGGCTGATGGGAACCA[C/T]CCTGTAGAGGTCCATCTGCGTTCAG 35378778 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.21 0.31 0.17 0.31 Homo sapiens C__25746110_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs9658134 hCV25746110 ||||UTR 5 peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AACCACCCTGTAGAGGTCCATCTGC[A/G]TTCAGACCCAGACGATGCCAGAGCT 35378798 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__16167640_30 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T ||||N163 rs2076167 hCV16167640 ||||Silent Mutation peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AGCTGGTGGCAGGGCTGACTGCAAA[C/T]GAGGGGAGCCAGTACAACCCACAGG 35391787 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.22 0.4 0.18 0.31 Homo sapiens C__30595872_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T ||||T202 rs9658160 hCV30595872 ||||Silent Mutation peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AAAAGAAGGCCCGCAGCATCCTCAC[C/T]GGCAAAGCCAGCCACACGGCGGTGA 35391904 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0.01 0.01 Homo sapiens C__30199499_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T ||||F263 rs9658163 hCV30199499 ||||Silent Mutation peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AGACCGTGCGGGAGCTCACTGAGTT[C/T]GCCAAGAGCATCCCCAGCTTCAGCA 35392267 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C__30163670_10 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs9658166 hCV30163670 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGGCTGACCTGCGGCAACTGGTCAC[C/T]GAGCACGCCCAGATGATGCAGCGGA 35393763 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0.02 0 Homo sapiens C__27473296_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/C |||| rs3734253 hCV27473296 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGGCCTCACATCCCCCTGCTCCTTT[A/C]TCTAGCTGGCTCCACGGGAGTTCAG 35394961 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0.01 Homo sapiens C__27470928_70 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs3734254 hCV27470928 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 AGGCCCCACTCCCCCTGAAGCTGCC[C/T]CTCCAGCACACACACATAAGCACTG 35395010 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.21 0.43 0.17 0.3 Homo sapiens C___8851953_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 G/T |||| rs1053041 hCV8851953 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CCTGGTGGGTCAGCCCAGCACCTGC[G/T]CCCAGTGGGAGCTTCCCGGGATAAA 35395192 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0 0 0 0 Homo sapiens C___8851954_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 A/G |||| rs1053046 hCV8851954 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 GTCCTCCCTCCCAAGGAGCCATTCT[A/G]TGTGTGACTCTGGGTGGAAGTGCCC 35395578 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.04 0.45 0 0.03 Homo sapiens C___8851955_60 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/T |||| rs1053049 hCV8851955 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 TGGAAGTGCCCAGCCCCTGCCCCTA[C/T]GGGCGCTGCAGCCTCCCTTCCATGC 35395618 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.26 0.37 0.18 0.3 Homo sapiens C___2234312_20 PPARD FAAR|NUC1|NUCI|NR1C2|NUCII|PPARB|MGC3931 C/G |||| rs9794 hCV2234312 |||| peroxisome proliferator-activated receptor delta NM_001171818|NM_001171819|NM_001171820|NM_006238|NM_177435 CGGCCACATGCCGCGTCCCTGCCCC[C/G]ACCCGGGTCTGGTGCTGAGGATACA 35395795 NCBI Build 37.1 Human "6p21.31c,6p21.31" 6 0.16 0.13 0.18 0.27 Homo sapiens C__34146436_10 CYP1B1 CP1B|GLC3A|P4501B1 -/C PharmGKB:PA27094 hCV34146436 "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 TCTTGCTTCTTATTGGCAAGTTTCC[-/C]TTGGCTTGTAAATTTTGGACAGCAC 38297881 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27859809_20 CYP1B1 CP1B|GLC3A|P4501B1 C/T G499 PharmGKB:PA27094 rs72549372 hCV27859809 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 ATAACTGAAATTCATTTTCGCAGGC[C/T]CATTTGGGTTGGCCCTGAAATCGCA 38298001 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27529372_20 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1*25,g.4437C>T" A/G W469 PharmGKB:PA27094 rs28936701 hCV27529372 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 TTAGAAAGTTCTTCGCCAATGCACC[A/G]CCTTTTGCCCACTGAAAAAATCATC 38298092 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__25632548_10 CYP1B1 CP1B|GLC3A|P4501B1 A/T S464 PharmGKB:PA27094 rs4986889 hCV25632548 Silent Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 CGCCAATGCACCGCCTTTTGCCCAC[A/T]GAAAAAATCATCACTCTGCTGGTCA 38298105 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0.01 0 0 Homo sapiens C__11642651_30 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1*4,g.4390A>G" C/T S453 PharmGKB:PA27094 rs1800440 hCV11642651 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 CATCACTCTGCTGGTCAGGTCCTTG[C/T]TGATGAGGCCATCCTTGTCCAAGAA 38298139 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0.17 0.07 0.01 0.01 Homo sapiens C___3099975_20 CYP1B1 CP1B|GLC3A|P4501B1 A/G PharmGKB:PA27094 rs1056837 hCV3099975 "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 TGGTCAGGTCCTTGTTGATGAGGCC[A/G]TCCTTGTCCAAGAATCGAGCTGGAT 38298150 NCBI Build 37.1 Human "2p22.2,2p22.2a" 2 0.49 0.28 0.18 0.09 Homo sapiens C__27859808_10 CYP1B1 CP1B|GLC3A|P4501B1 C/T Q444 PharmGKB:PA27094 rs72549376 hCV27859808 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GATGAGGCCATCCTTGTCCAAGAAT[C/T]GAGCTGGATCAAAGTTCTCCGGGTT 38298166 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27537007_10 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1*23,g.4342C>T" A/G L437 PharmGKB:PA27094 rs56175199 hCV27537007 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GAATCGAGCTGGATCAAAGTTCTCC[A/G]GGTTAGGCCACTTCACTGGGTCATG 38298187 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0.01 0 0 Homo sapiens C___3099976_30 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1*3,g.4326C>G|CYP1B1*5,g.4326C>G|CYP1B1*6,g.4326C>G|CYP1B1*7,g.4326C>G" C/G V432 PharmGKB:PA27094 rs1056836 hCV3099976 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 AAGTTCTCCGGGTTAGGCCACTTCA[C/G]TGGGTCATGATTCACAGACCACTGG 38298203 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0.49 0.28 0.18 0.09 Homo sapiens C__29672546_10 CYP1B1 CP1B|GLC3A|P4501B1 A/C S399 PharmGKB:PA27094 rs72549378 hCV29672546 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GGTGTTGGCAGTGGTGGCATGAGGA[A/C]TAGTGACAGGCACAAAGCTGGAGAA 38298301 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27541283_20 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1*20,g.4191G>A" C/T K387 PharmGKB:PA27094 rs55989760 hCV27541283 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 ACAAAGCTGGAGAAGCGCATGGCTT[C/T]ATAAAGGAAGGCCAGGACATAGGGC 38298338 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27531808_20 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1*19,g.4168C>T" A/G L379 PharmGKB:PA27094 rs56305281 hCV27531808 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 TTCATAAAGGAAGGCCAGGACATAG[A/G]GCAGGTTGGGCTGGTCACCCATACA 38298361 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C____918706_10 CYP1B1 CP1B|GLC3A|P4501B1 C/T PharmGKB:PA27094 hCV918706 "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 AGGACATAGGGCAGGTTGGGCTGGT[C/T]ACCCATACAAGGCAGACGGTCCCTC 38298377 NCBI Build 37.1 Human "2p22.2,2p22.2a" 2 0 0 0 0 Homo sapiens C____918707_30 CYP1B1 CP1B|GLC3A|P4501B1 C/T H368 PharmGKB:PA27094 rs79204362 hCV918707 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GGGCTGGTCACCCATACAAGGCAGA[C/T]GGTCCCTCCCCACGACCTGATCCAA 38298394 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0.01 0 0 0 Homo sapiens C__27859807_20 CYP1B1 CP1B|GLC3A|P4501B1 C/T M364 PharmGKB:PA27094 rs72549379 hCV27859807 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 ATACAAGGCAGACGGTCCCTCCCCA[C/T]GACCTGATCCAATTCTGCCTGCACT 38298407 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27859806_30 CYP1B1 CP1B|GLC3A|P4501B1 A/G X355 PharmGKB:PA27094 rs72549381 hCV27859806 Nonsense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 ACCTGATCCAATTCTGCCTGCACTC[A/G]AGTCTGCACATCAGGATACCTGTTT 38298434 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27861788_20 CYP1B1 CP1B|GLC3A|P4501B1 A/G F345 PharmGKB:PA27094 rs66583685 hCV27861788 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 TCCCAGAGGCTTTACCTGGTGAAGA[A/G]GAGGAGCAGCCACTGCAGCGCGGTG 38301499 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27859805_10 CYP1B1 CP1B|GLC3A|P4501B1 A/C L320 PharmGKB:PA27094 rs72549382 hCV27859805 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 AAGATGTCAGTGATAGTGGCCGGTA[A/C]GTTCTCCAAATCCAGCCGCGCGCCA 38301574 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__29907546_10 CYP1B1 CP1B|GLC3A|P4501B1 A/C L266 PharmGKB:PA27094 rs9341250 hCV29907546 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GTCCAGGATGAAGTTGCTGAAGTTG[A/C]GGTTGAGCTGCTCGAATTCGCGGAA 38301735 NCBI Build 37.1 Human "2p22.2,2p22.2a" 2 0 0 0 0 Homo sapiens C__30159809_10 CYP1B1 CP1B|GLC3A|P4501B1 A/G X248 PharmGKB:PA27094 rs66913338 hCV30159809 Nonsense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GTGCGCACCGGGTTGGGGAAGTACT[A/G]CAGCCAGGGCATCACGTCCACCAGG 38301790 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__25472256_20 CYP1B1 CP1B|GLC3A|P4501B1 C/G V243 PharmGKB:PA27094 rs9341249 hCV25472256 Silent Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 TGGGGAAGTACTGCAGCCAGGGCAT[C/G]ACGTCCACCAGGCTGCCCGCGCCCA 38301803 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0.17 0.01 0 Homo sapiens C__25632546_30 CYP1B1 CP1B|GLC3A|P4501B1 C/T K229 PharmGKB:PA27094 rs57865060 hCV25632546 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GCGCCCACCGTGCGCCCGAACTCTT[C/T]GTTGTGGCTGAGCAGCTCACGGAAC 38301847 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0.02 0 0 0 Homo sapiens C__25632547_20 CYP1B1 CP1B|GLC3A|P4501B1 A/T V218 PharmGKB:PA27094 rs72549383 hCV25632547 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GCTGAGCAGCTCACGGAACTCGGGG[A/T]CGTCGTGGCTGTAGCGGCAGCCGAA 38301879 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27859207_20 CYP1B1 CP1B|GLC3A|P4501B1 A/C I215 PharmGKB:PA27094 rs72549384 hCV27859207 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 CTCACGGAACTCGGGGTCGTCGTGG[A/C]TGTAGCGGCAGCCGAAACACACGGC 38301888 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__29708911_10 CYP1B1 CP1B|GLC3A|P4501B1 C/T N206 PharmGKB:PA27094 rs9341248 hCV29708911 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GTAGCGGCAGCCGAAACACACGGCA[C/T]TCATGACGTTGGCCACGGCCACGAC 38301915 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27859803_10 CYP1B1 CP1B|GLC3A|P4501B1 C/T I198 PharmGKB:PA27094 rs59472972 hCV27859803 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 CTCATGACGTTGGCCACGGCCACGA[C/T]GGTCAGCGGCCTCGGGTCGAGGAAG 38301940 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0.01 Homo sapiens C__25632539_20 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1,c.241T>A" A/T N81 PharmGKB:PA27094 rs9282671 hCV25632539 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 AGGCGGATCTGGAAAACGTCGCCGT[A/T]GCGCCGCGCCAGGCGAGCGAACGAG 38302291 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0.01 0 0 0 Homo sapiens C__27541281_20 CYP1B1 CP1B|GLC3A|P4501B1 "CYP1B1*12,c.182G>A|CYP1B1*12,g.182G>A" C/T E61 PharmGKB:PA27094 rs28936700 hCV27541281 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 CGCCTGGCCCACCGCCGCCGCGTTT[C/T]CGATCAGTGGCCACGCAAACGGGCC 38302350 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__30634069_10 CYP1B1 CP1B|GLC3A|P4501B1 C/G L27 PharmGKB:PA27094 rs4987135 hCV30634069 Silent Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 CCACATGCACAGTGGCCAGCACCGA[C/G]AGGAGTAGCAGGAGCGTGGTCTGCT 38302451 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27859205_20 CYP1B1 CP1B|GLC3A|P4501B1 A/G X19 PharmGKB:PA27094 rs72549388 hCV27859205 Nonsense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 AGGAGTAGCAGGAGCGTGGTCTGCT[A/G]GATGGACAGCGGGTTTAGCGGCCAA 38302477 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__29744989_10 CYP1B1 CP1B|GLC3A|P4501B1 A/G L16 PharmGKB:PA27094 rs9341246 hCV29744989 Silent Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 AGGAGCGTGGTCTGCTGGATGGACA[A/G]CGGGTTTAGCGGCCAAGGGTCGTTC 38302486 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__25632538_20 CYP1B1 CP1B|GLC3A|P4501B1 A/G L12 PharmGKB:PA27094 rs61216970 hCV25632538 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 CTGCTGGATGGACAGCGGGTTTAGC[A/G]GCCAAGGGTCGTTCGGGCTGAGGCT 38302497 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0.01 Homo sapiens C__27861787_10 CYP1B1 CP1B|GLC3A|P4501B1 A/G T0 PharmGKB:PA27094 rs72549389 hCV27861787 Mis-sense Mutation "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GTCGTTCGGGCTGAGGCTGGTGCCC[A/G]TGCTGGGGACAGAGAGGAGAAGGCG 38302530 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__29582362_10 CYP1B1 CP1B|GLC3A|P4501B1 C/T PharmGKB:PA27094 rs9341245 hCV29582362 UTR 5 "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 GCAGCGCCTCGGCAGACAGACTGAC[C/T]TGCGGGGAGGTGCGGTTTCCAGTGG 38302923 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0 0 0 Homo sapiens C__27835232_20 CYP1B1 CP1B|GLC3A|P4501B1 A/G PharmGKB:PA27094 rs9341244 hCV27835232 UTR 5 "cytochrome P450, family 1, subfamily B, polypeptide 1" NM_000104 TCTCTTGGCGTCGTCAGTGCCAGGA[A/G]CGCTTGGATTGGGATGGGGACGGAG 38303095 NCBI Build 37.1 Human "2p22.2a,2p22.2" 2 0 0.08 0 0 Homo sapiens C__25472120_20 ALDH1B1 ALDH5|ALDHX|MGC2230 C/T T61 rs2073477 hCV25472120 Silent Mutation "aldehyde dehydrogenase 1 family, member B1" NM_000692 CCTTCCCGACGGTCAACCCTACCAC[C/T]GGGGAGGTCATTGGGCACGTGGCTG 38395928 NCBI Build 37.1 Human "9p13.2,9p13.2a" 9 0.17 0.26 0.4 0.39 Homo sapiens C__25472119_20 ALDH1B1 ALDH5|ALDHX|MGC2230 C/T I65 rs2228094 hCV25472119 Silent Mutation "aldehyde dehydrogenase 1 family, member B1" NM_000692 TCAACCCTACCACCGGGGAGGTCAT[C/T]GGGCACGTGGCTGAAGGTGACCGGG 38395940 NCBI Build 37.1 Human "9p13.2,9p13.2a" 9 0.04 0.09 0 0 Homo sapiens C__15950964_20 ALDH1B1 ALDH5|ALDHX|MGC2230 G/T L107 rs2073478 hCV15950964 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member B1" NM_000692 TCTGAGCGGGGCCGGCTGCTGAACC[G/T]CCTGGCAGACCTAGTGGAGCGGGAT 38396065 NCBI Build 37.1 Human "9p13.2a,9p13.2" 9 0.39 0.42 0.24 0.35 Homo sapiens C__32364502_10 ALDH1B1 ALDH5|ALDHX|MGC2230 C/T I202 rs4646773 hCV32364502 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member B1" NM_000692 TGGAAACTTGCCCCGGCACTCGCCA[C/T]AGGCAACACTGTGGTTATGAAGGTG 38396350 NCBI Build 37.1 Human "9p13.2a,9p13.2" 9 0 0 0.03 0 Homo sapiens C___1348505_20 ALDH1B1 ALDH5|ALDHX|MGC2230 C/T S215 rs71504569 hCV1348505 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member B1" NM_000692 GGTTATGAAGGTGGCAGAGCAGACC[C/T]CCCTCTCTGCCCTGTATTTGGCCTC 38396388 NCBI Build 37.1 Human "9p13.2a,9p13.2" 9 0 0 0 0 Homo sapiens C__25471773_20 ALDH1B1 ALDH5|ALDHX|MGC2230 A/G M253 rs4878199 hCV25471773 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member B1" NM_000692 AGCAGGTGCGGCCATCGCCCAGCAC[A/G]TGGATGTTGACAAAGTTGCCTTCAC 38396502 NCBI Build 37.1 Human "9p13.2a,9p13.2" 9 0.04 0.06 0 0 Homo sapiens C__32350075_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*12B,g.5163G>A|CYP2A6*12C,g.5163G>A|CYP2A6*17,g.5163G>A" C/T PharmGKB:PA121 rs4803380 hCV32350075 Intron "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 GACACAGAGAGGGGCTGGAAGTCCC[C/T]GTAGTCTGGGGGGTGGGGGCGGATA 41351169 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.03 0.08 0 0 Homo sapiens C__33605265_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A -/T PharmGKB:PA121 rs72547582 hCV33605265 Frame Shift InDel "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CTGGGGGGTGGGGGCGGATAGCACC[-/T]TAGGGAGGAAGAAATCCCGAAACTT 41351200 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816076_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*17,c.1093G>A|CYP2A6*17,g.5065G>A" C/T M365 PharmGKB:PA121 rs28399454 hCV34816076 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CTGCGGGCCAAACTCATGGGGATCA[C/T]GTCTCCAAATCTTTGGATCTCGTGG 41351267 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.08 0 0 Homo sapiens C__26681687_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A C/G T305 PharmGKB:PA121 rs2644907 hCV26681687 Silent Mutation "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 AGCCATAGCGCAGGGTGGTGCTGAC[C/G]GTCTCGGTGCCCCCAATGAAGAGGT 41351919 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__26681689_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A C/T K289 PharmGKB:PA121 rs2644905 hCV26681689 Silent Mutation "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 GGTTCAACGTGGTCATCACCAGGTT[C/T]TTCAAGTAGAACTCCGTGTTGGGGT 41351967 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.01 0.01 0 0 Homo sapiens C__60731447_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*20,c.587_588delAA" TT/- PharmGKB:PA121 hCV60731447 "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CATGCGCAACAGTGACAGGAACTC[TT/-]TGTCCTTATAGTCAAAGCGGTCCCC 41354190 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__30634229_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6,g.2026C>T" A/G PharmGKB:PA121 rs28399443 hCV30634229 Intron "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 GCGCCTGCGGGTATGGCGGGAGAAG[A/G]GGGTTGGGGAGAGAGTCAACTCAGA 41354306 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0.03 0 0 0 Homo sapiens C__30634230_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6,g.1890G>C" C/G PharmGKB:PA121 rs8192727 hCV30634230 Intron "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 GCCTTTCCCCACCTAGTCCCCATCC[C/G]CAGGCAGAACGCGCGCGGGTTCCTC 41354442 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.08 0.1 0.03 0.02 Homo sapiens C__29560333_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*9B,g.1836G>T" A/C PharmGKB:PA121 rs8192726 hCV29560333 Intron "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CTGGGTGTTTTCCTTCTCCTGCCCC[A/C]GCACTCGGGGTCCCCTGCTCACCGC 41354496 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.07 0.09 0.11 0.16 Homo sapiens C__27861808_60 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*2,c.479T>A|CYP2A6*2,g.1799T>A" T/A H160 PharmGKB:PA121 rs1801272 hCV27861808 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CCCCTGCTCACCGCCAGTGCCCCGG[T/A]GGGCGTCGATGAGGAAGCCCGCCTC 41354533 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.02 0 0 0 Homo sapiens C__30634232_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6,g.1777G>T/C" C/G PharmGKB:PA121 rs2545783 hCV30634232 "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CGGAGGGCGTCGATGAGGAAGCCCG[C/G]CTCCTCCTGGATGCGCTCCTCGATG 41354555 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__30534060_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*6,c.383G>A|CYP2A6*6,g.1703G>A|CYP2A6,g.1703G>T" C/T PharmGKB:PA121 rs4986891 hCV30534060 "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CCGCAGGGTGGCGATGGAGAAGCGC[C/T]GGAGCTGCTTGGCGCGCTCCCCGTT 41354629 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__29454138_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A A/C PharmGKB:PA121 rs72547583 hCV29454138 Intron "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CGCTCCCCGTTGCTGAATACCACGC[A/C]TGGGGAGGTGAACGCGGGAATGGAG 41354669 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816078_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*17,g.209C>T" A/G PharmGKB:PA121 rs8192722 hCV34816078 Intron "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 CAGCCAACTAGGCAGCCCCCACCCC[A/G]TGCCACCCATCTCCCTGCCTTGGGA 41356123 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.11 0 0 Homo sapiens C__30634234_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*14,c.86G>A|CYP2A6*14,g.86G>A" C/T N29 PharmGKB:PA121 rs28399435 hCV30634234 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 GGGTCCCGGAGGCAGCTTCCCCTTG[C/T]TCTTCCTCTGCTGCCAAACAGACAT 41356246 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.06 0 0 0 Homo sapiens C__26681694_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*14,c.51G>A|CYP2A6*14,g.51G>A|CYP2A6*17,c.51A>G|CYP2A6*17,g.51A>G|CYP2A6*18B,c.51G>A|CYP2A6*18B,g.51G>A|CYP2A6*1B12,c.51G>A|CYP2A6*1B12,g.51G>A|CYP2A6*2,c.51G>A|CYP2A6*2,g.51G>A|CYP2A6*20,c.51G>A|CYP2A6*20,g.51G>A|CYP2A6*21,c.51G>A|CYP2A6*21,g.51G>A|CYP2A6*22,c.51G>A|CYP2A6*22,g.51G>A|CYP2A6*9,c.51A>G|CYP2A6*9,g.51A>G" C/T V17 PharmGKB:PA121 rs1137115 hCV26681694 Silent Mutation "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 GCTGCCAAACAGACATCAAGACCAT[C/T]ACAGTCAGGCAGACCAGCAAGGCCA 41356281 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.29 0.28 0.29 0.17 Homo sapiens C__30634332_10 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*13,g.-48T>G|CYP2A6*15,g.-48T>G|CYP2A6*9,g.-48T>G|CYP2A6*9A,g.-48T>G|CYP2A6*9B,g.-48T>G" A/C PharmGKB:PA121 rs28399433 hCV30634332 "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 GTGACGGCTGGGGTGGTTTGCCTTT[A/C]TACTGCCTGAAAAAGAGGGATGGAC 41356379 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.07 0.1 0.2 0.2 Homo sapiens C__34816079_20 CYP2A6 CPA6|CYP2A|CYP2A3|P450PB|P450C2A "CYP2A6*1B3,g.-395G>A" C/T PharmGKB:PA121 rs67568271 hCV34816079 "cytochrome P450, family 2, subfamily A, polypeptide 6" NM_000762 TCTGGGGGTTCCAGGGGAGAGGAAT[C/T]CAAAGGTCTGGGTTTTATTAGGGTA 41356726 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__11977892_20 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/G | rs1060092 hCV11977892 UTR 3|UTR 3 "cytochrome P450, family 2, subfamily A, polypeptide 7" NM_000764|NM_030589 TCCCGCATCTTCCCCCCATTCTTAT[A/G]CCCGCCTCTTCCGCGAACCCCGCCC 41381517 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__11977885_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 C/T | rs1060087 hCV11977885 UTR 3|UTR 3 "cytochrome P450, family 2, subfamily A, polypeptide 7" NM_000764|NM_030589 TCTTCCGCGAACCCCGCCCTGACCC[C/T]GCCTTTCCCTGGCCCCGCCCACCAG 41381549 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__30634012_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 G/T | hCV30634012 | "cytochrome P450, family 2, subfamily A, polypeptide 7" NM_000764|NM_030589 ATGGAAAAGGGCACAAAAGCATCAC[G/T]CTTCTTAAACTGCCCCTTGTCATCC 41382459 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__11977870_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/G | rs3869579 hCV11977870 | "cytochrome P450, family 2, subfamily A, polypeptide 7" NM_000764|NM_030589 TTCATGAGCAGCAAGAAGCCATAGC[A/G]CAGGGTGGTGCTGACCGTCTCGGTG 41383799 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.44 0.45 0.41 0.47 Homo sapiens C__26824202_20 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/C A153| rs56081734 hCV26824202 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 7" NM_000764|NM_030589 CGGATGGCCTCGATGAGGAAGCCCG[A/C]CTCCTCCTGGATGCGCTCCTCGATG 41386420 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.47 0.45 0.41 0.47 Homo sapiens C__27493665_10 CYP2A7 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 A/G V117| rs3815711 hCV27493665 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 7" NM_000764|NM_030589 CTTGGCGCGCTCCCCGTTGCTGAAC[A/G]CCACGCCTGGGGAGGTCAAGGCGGG 41386527 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.47 0.49 0.42 0.47 Homo sapiens C__30634241_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 C/T PharmGKB:PA123 rs3211368 hCV30634241 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGCGGATTTGTCTTGGTGAAGGCAT[C/T]GCCCGTGCGGAATTGTTCCTCTTCT 41454986 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__11507727_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1B,g.-2320T>C|CYP2B6*1C,g.-2320T>C|CYP2B6*1H,g.-2320T>C|CYP2B6*1J,g.-2320T>C|CYP2B6*4B,g.-2320T>C|CYP2B6*5B,g.-2320T>C" C/T PharmGKB:PA123 rs7254579 hCV11507727 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TATTGGGGGTGAATTTTGCCCGATA[C/T]CTGGCTGAATTTCCCCTGATAATGC 41494891 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.35 0.17 0.48 0.37 Homo sapiens C__26823957_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1K,g.-1972C>T" C/T PharmGKB:PA123 rs1962261 hCV26823957 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CATTGGACAATGTAGCCCCAACCCA[C/T]TGTATGACCTTGGGTAAGACTTGCA 41495239 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.16 0 0 Homo sapiens C__27512664_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1D,g.-1778A>G|CYP2B6*1J,g.-1778A>G|CYP2B6*4B,g.-1778A>G" A/G PharmGKB:PA123 rs3760657 hCV27512664 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 ATCTTAGTGTCAGATGACACAGCAC[A/G]GCAAGACCGAGGCCCTTGGTTCAGG 41495433 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.08 0.07 0.18 0.19 Homo sapiens C__31639516_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1E,g.-1578C>T|CYP2B6*1K,g.-1578C>T|CYP2B6*1L,g.-1578C>T|CYP2B6*1M,g.-1578C>T" C/T PharmGKB:PA123 rs12721652 hCV31639516 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TGTTGCCTCATGGTCAAAAGTCAGG[C/T]GTAGGATGAGACAGGCAGACACGCA 41495633 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0 0.25 0.01 0 Homo sapiens C__26823958_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1N,g.-1456T>C|CYP2B6*28,g.-1456T>C|CYP2B6*4D,g.-1456T>C|CYP2B6*6B,g.-1456T>C|CYP2B6*7B,g.-1456 T>C|CYP2B6*7B,g.-1456T>C|CYP2B6*9,g.-1456T>C" C/T PharmGKB:PA123 rs2054675 hCV26823958 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGGATAGAGACATATGGGAGTCCAG[C/T]AGACATCAATCAAACTGGACTCAGT 41495755 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.17 0.44 0.17 0.31 Homo sapiens C__31639517_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1F,g.-1224A>G" A/G PharmGKB:PA123 rs12721648 hCV31639517 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGTTTCTGTCTCCTTCCAACTGACC[A/G]CCTCTTCCTCTGAGACTCACCAGTT 41495987 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.01 0 0 Homo sapiens C___2818160_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*4B,g.-750T>C|CYP2B6*4D,g.-750T>C|CYP2B6*5B,g.-750T>C|CYP2B6*6B,g.-750T>C|CYP2B6*6C,g.-750T>C|CYP2B6*7B,g.-750T>C|CYP2B6*1G,g.-750T>C|CYP2B6*1H,g.-750T>C|CYP2B6*1J,g.-750T>C|CYP2B6*1K,g.-750T>C|CYP2B6*1L,g.-750T>C|CYP2B6*1N,g.-750T>C|CYP2B6*22,g.-750T>C|CYP2B6*28,g.-750T>C" C/T PharmGKB:PA123 rs4802101 hCV2818160 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TAAAAGTACCCACCATCACGCCCGG[C/T]TAATTTTTGTGTTTTTAGTACAGAT 41496461 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.49 0.09 0.3 0.32 Homo sapiens C__27830964_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*22,g.-82T>C" C/T PharmGKB:PA123 rs34223104 hCV27830964 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGGAGGTGGGGAATGGATGAAATTT[C/T]ATAACAGGGTGCAGAGGCAGGGTCA 41497129 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.01 0.02 0.01 0 Homo sapiens C___2818162_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*10,c.64C>T|CYP2B6*10,g.64C>T|CYP2B6*2A,c.64C>T|CYP2B6*2A,g.64C>T|CYP2B6*2B,c.64C>T|CYP2B6*2B,g.64C>T" C/T C22 PharmGKB:PA123 rs8192709 hCV2818162 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGGACTCTTGCTACTCCTGGTTCAG[C/T]GCCACCCTAACACCCATGACCGCCT 41497274 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0.06 0.03 0.07 0.02 Homo sapiens C__60732171_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*17A,c.76A>T|CYP2B6*17A,g.76A>T|CYP2B6*17B,c.76A>T|CYP2B6*17B,g.76A>T" A/T S26 PharmGKB:PA123 rs33973337 hCV60732171 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 ACTCCTGGTTCAGCGCCACCCTAAC[A/T]CCCATGACCGCCTCCCACCAGGGCC 41497286 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.02 0 0 Homo sapiens C__25594335_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*17A,c.85C>A|CYP2B6*17A,g.85C>A|CYP2B6*17B,c.85C>A|CYP2B6*17B,g.85C>A" A/C S29 PharmGKB:PA123 rs33926104 hCV25594335 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TCAGCGCCACCCTAACACCCATGAC[A/C]GCCTCCCACCAGGGCCCCGCCCTCT 41497295 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0 0 0 0 Homo sapiens C__33845811_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*11A,c.136A>G|CYP2B6*11A,g.136A>G|CYP2B6*11B,c.136A>G|CYP2B6*11B,g.136A>G" A/G V46 PharmGKB:PA123 rs35303484 hCV33845811 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 GCCCCTTTTGGGAAACCTTCTGCAG[A/G]TGGATAGAAGAGGCCTACTCAAATC 41497346 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__26823966_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*10,c.216G>C|CYP2B6*10,g.12740G>C|CYP2B6*2B,c.216G>C|CYP2B6*2B,g.12740G>C" C/G P72 PharmGKB:PA123 rs28399485 hCV26823966 Silent Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 ACGTCTTCACGGTACACCTGGGACC[C/G]AGGCCCGTGGTCATGCTGTGTGGAG 41509950 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.06 0.04 0.06 0.02 Homo sapiens C__33845829_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*12,c.296G>A|CYP2B6*12,g.12820G>A" A/G E99 PharmGKB:PA123 rs36060847 hCV33845829 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AAGGCTGAGGCCTTCTCTGGCCGGG[A/G]AAAAATCGCCATGGTCGACCCATTC 41510030 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__26823967_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1D,g.12917A>T|CYP2B6*4C,g.12917A>T" A/T PharmGKB:PA123 rs2279342 hCV26823967 Intron "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TGGGGGGTGCATCAGGGAAGGGAGT[A/T]TATGGGAGGAAGAAGGACTCAGAGC 41510127 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0.08 0.07 0.19 0.18 Homo sapiens C__30634236_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*13A,c.415A>G|CYP2B6*13A,g.13072A>G|CYP2B6*13B,c.415A>G|CYP2B6*13B,g.13072A>G|CYP2B6*8,c.415A>G|CYP2B6*8,g.13072A>G" A/G E139 PharmGKB:PA123 rs12721655 hCV30634236 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CACTATGAGGGACTTCGGGATGGGA[A/G]AGCGGAGTGTGGAGGAGCGGATTCA 41510282 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816082_30 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*14,c.419G>A|CYP2B6*14,g.13076G>A" A/G Q140 PharmGKB:PA123 rs35773040 hCV34816082 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 ATGAGGGACTTCGGGATGGGAAAGC[A/G]GAGTGTGGAGGAGCGGATTCAGGAG 41510286 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.01 0 0 0 Homo sapiens C__26823969_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*1C,g.14593C>G" C/G PharmGKB:PA123 rs4803418 hCV26823969 Intron "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 ATTGAGGCAGAGAAAATTAGAGAGA[C/G]AGACAGACAAAGCTTAGGAAAAGGT 41511803 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.32 0.13 0.49 0.37 Homo sapiens C___7817764_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*13B,g.15582C>T|CYP2B6*15A,g.15582C>T|CYP2B6*15B,g.15582C>T|CYP2B6*1C,g.15582C>T" C/T PharmGKB:PA123 rs4803419 hCV7817764 Intron "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CAGGCACTTCAGTCTGTGTCCTTGA[C/T]CTGCTGCTTCTTCCTAGGGGCCCTC 41512792 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.32 0.11 0.49 0.38 Homo sapiens C__27522377_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6,g.15614C>G" C/G A167 PharmGKB:PA123 rs3826711 hCV27522377 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CTTCTTCCTAGGGGCCCTCATGGAC[C/G]CCACCTTCCTCTTCCAGTCCATTAC 41512824 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0.03 0 Homo sapiens C___7817765_60 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*13A,c.516G>T|CYP2B6*13A,g.15631G>T|CYP2B6*13B,c.516G>T|CYP2B6*13B,g.15631G>T|CYP2B6*19,c.516G>T|CYP2B6*19,g.15631G>T|CYP2B6*20,c.516G>T|CYP2B6*20,g.15631G>T|CYP2B6*6A,c.516G>T|CYP2B6*6A,g.15631G>T|CYP2B6*6B,c.516G>T|CYP2B6*6B,g.15631G>T|CYP2B6*6C,c.516G>T|CYP2B6*6C,g.15631G>T|CYP2B6*7A,c.516G>T|CYP2B6*7A,g.15631G>T|CYP2B6*7B,c.516G>T|CYP2B6*7B,g.15631G>T|CYP2B6*9,c.516G>T|CYP2B6*9,g.15631G>T" G/T H172 PharmGKB:PA123 rs3745274 hCV7817765 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TCATGGACCCCACCTTCCTCTTCCA[G/T]TCCATTACCGCCAACATCATCTGCT 41512841 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.17 0.42 0.18 0.3 Homo sapiens C__25594333_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 A/G I183 PharmGKB:PA123 rs58871670 hCV25594333 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TACCGCCAACATCATCTGCTCCATC[A/G]TCTTTGGAAAACGATTCCACTACCA 41512872 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0.01 0 0 0 Homo sapiens C__30634237_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*3,c.777C>A|CYP2B6*3,g.18045C>A" A/C R259 PharmGKB:PA123 rs45482602 hCV30634237 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGCACCGTGAAACCCTGGACCCCAG[A/C]GCCCCCAAGGACCTCATCGACACCT 41515255 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__26823974_30 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*11B,g.18273G>A|CYP2B6*12,g.18273G>A|CYP2B6*13A,g.18273G>A|CYP2B6*13B,g.18273G>A|CYP2B6*14,g.18273G>A|CYP2B6*15B,g.18273G>A|CYP2B6*17A,g.18273G>A|CYP2B6*17B,g.18273G>A|CYP2B6*18,g.18273G>A|CYP2B6*19,g.18273G>A|CYP2B6*20,g.18273G>A|CYP2B6*21,g.18273G>A|CYP2B6*27,g.18273G>A|CYP2B6*28,g.18273G>A|CYP2B6,g.18273A>G" A/G PharmGKB:PA123 rs2279344 hCV26823974 Intron "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGGAAAGAAAGATGAGGTGAAAGGA[A/G]GGAGAAAATAGGGAGGAGGAACTGA 41515483 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.46 0.19 0.26 0.31 Homo sapiens C__60732299_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*28,c.917C>G|CYP2B6*28,g.18783C>G" C/G S306 PharmGKB:PA123 rs34698757 hCV60732299 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 GCTGGCACTGAGACCACCAGCACCA[C/G]TCTCCGCTACGGCTTCCTGCTCATG 41515993 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__60732328_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*16,c.983T>C|CYP2B6*16,g.21011T>C|CYP2B6*18,c.983T>C|CYP2B6*18,g.21011T>C" C/T T328 PharmGKB:PA123 rs28399499 hCV60732328 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TGTACAGAGAGAGTCTACAGGGAGA[C/T]TGAACAGGTGATTGGCCCACATCGC 41518221 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.06 0 0 Homo sapiens C__60732331_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*28,c.1132C>T|CYP2B6*28,g.21160C>T" C/T X378 PharmGKB:PA123 rs34097093 hCV60732331 Nonsense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CATTGTCACCCAACACACCAGCTTC[C/T]GAGGGTACATCATCCCCAAGGTAAG 41518370 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0 0 0 0 Homo sapiens C__33845840_20 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*15A,c.1172T>A|CYP2B6*15A,g.21388T>A|CYP2B6*15B,c.1172T>A|CYP2B6*15B,g.21388T>A" A/T N391 PharmGKB:PA123 rs35979566 hCV33845840 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CCTCAGGACACAGAAGTATTTCTCA[A/T]CCTGAGCACTGCTCTCCATGACCCA 41518598 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0.01 0 0 0 Homo sapiens C__30634239_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 A/G PharmGKB:PA123 hCV30634239 "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 TTTCTCATCCTGAGCACTGCTCTCC[A/G]TGACCCACACTACTTTGAAAAACCA 41518616 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__22275631_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*13A,g.21563C>T|CYP2B6*13B,g.21563C>T|CYP2B6*19,g.21563C>T|CYP2B6*9,g.21563C>T" C/T PharmGKB:PA123 rs8192719 hCV22275631 Intron "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 AGACACCAGAGGGCAGGTACTATCC[C/T]CAACTTGAGAAAAACAACGAGAGAT 41518773 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.2 0.42 0.18 0.3 Homo sapiens C__27471754_10 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*23,c.1375A>G|CYP2B6*23,g.25421A>G" A/G V459 PharmGKB:PA123 rs3211369 hCV27471754 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CACCACCATCCTCCAGAACTTCTCC[A/G]TGGCCAGCCCCGTGGCCCCAGAAGA 41522631 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__30634242_40 CYP2B6 CPB6|IIB1|P450|CYP2B|CYP2B7|CYP2B7P|CYPIIB6 "CYP2B6*5A,c.1459C>T|CYP2B6*5A,g.25505C>T|CYP2B6*5B,c.1459C>T|CYP2B6*5B,g.25505C>T|CYP2B6*5C,c.1459C>T|CYP2B6*5C,g.25505C>T|CYP2B6*7A,c.1459C>T|CYP2B6*7A,g.25505C>T|CYP2B6*7B,c.1459C>T|CYP2B6*7B,g.25505C>T" C/T C487 PharmGKB:PA123 rs3211371 hCV30634242 Mis-sense Mutation "cytochrome P450, family 2, subfamily B, polypeptide 6" NM_000767 CAAAATACCCCCAACATACCAGATC[C/T]GCTTCCTGCCCCGCTGAAGGGGCTG 41522715 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.21 0.02 0.03 0 Homo sapiens C__34816083_20 CYP2A13 CPAD|CYP2A "CYP2A13*2A,g.-1429A>G|CYP2A13*2B,g.-1429A>G" A/G hCV34816083 "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 AGATTCAACCAGATCATACACACCT[A/G]GACTTAATCTTCCCATATATGACCA 41592948 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.02 0.15 0.01 0.06 Homo sapiens C__25653739_20 CYP2A13 CPAD|CYP2A "CYP2A13*2A,g.74G>A|CYP2A13*2B,g.74G>A" A/G Q25 rs8192784 hCV25653739 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GTGATGGTCTTGATGTCAGTCTGGC[A/G]GCAGAGGAAGAGCAGGGGGAAGCTG 41594450 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.02 0.15 0.01 0.06 Homo sapiens C__25653734_30 CYP2A13 CPAD|CYP2A A/C S64 rs72547586 hCV25653734 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 CACCTGCCTCCAACAGATCAGTGAG[A/C]GCTATGGCCCTGTGTTCACCATTCA 41594843 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816085_20 CYP2A13 CPAD|CYP2A "CYP2A13*1J,g.523C>T" C/T C82 rs67027422 hCV34816085 Silent Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GGCCCCGGCGGGTCGTGGTGCTGTG[C/T]GGACATGATGCCGTCAAGGAGGCTC 41594899 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__30634006_10 CYP2A13 CPAD|CYP2A "CYP2A13*7,g.578C>T" C/T rs56715319 hCV30634006 "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GGACCAGGCTGAGGAGTTCAGCGGG[C/T]GAGGCGAGCAGGCCACCTTCGACTG 41594954 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0.01 0 Homo sapiens C__32407260_20 CYP2A13 CPAD|CYP2A "CYP2A13*3,g.1634_1635insACC" ACC/- T134TP rs72547587 hCV32407260 Amino Acid InDel "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 CTCCGGCGCTTCTCCATCGCCACC[ACC/-]CTAAGGGGTTTTGGCGTGGGCAAG 41596011 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0.05 0 Homo sapiens C__11977295_10 CYP2A13 CPAD|CYP2A "CYP2A13*1D,g.1757A>G|CYP2A13*1H,g.1757A>G|CYP2A13*2A,g.1757A>G|CYP2A13*2B,g.1757A>G|CYP2A13*3,g.1757A>G" A/G rs1645690 hCV11977295 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 AGGGGACCCCGAGTGCGAGGGCGGG[A/G]ACCCGCGCTTTCTGCCTGGGGATGG 41596133 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.06 0.47 0.06 0.07 Homo sapiens C__30634008_10 CYP2A13 CPAD|CYP2A "CYP2A13*1E,g.1894G>T" G/T rs67927428 hCV30634008 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 CTGACTCTCCTCAGACCTCTGAGTT[G/T]ACTCTCTCCCCAACCCCCTTCTCCC 41596270 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816088_20 CYP2A13 CPAD|CYP2A "CYP2A13*3,g.1970A>C" A/C T177 rs59722942 hCV34816088 Silent Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 ATCCCACCTTCTTCCTGAGCCGCAC[A/C]GTCTCCAATGTCATCAGCTCCATTG 41596346 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.02 0.05 0 Homo sapiens C__34816089_20 CYP2A13 CPAD|CYP2A "CYP2A13*1K,g.1991C>A" A/C hCV34816089 "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GCACAGTCTCCAATGTCATCAGCTC[A/C]ATTGTCTTTGGGGACCGCTTTGACT 41596367 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816090_20 CYP2A13 CPAD|CYP2A "CYP2A13*2A,g.2211T>C|CYP2A13*2B,g.2211T>C|CYP2A13*3,g.2211T>C" C/T rs8192786 hCV34816090 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 CCAGACAGTGTCCCCTCAAAATCAG[C/T]CCCCGATATTGGACAACTGGACGGT 41596587 NCBI Build 37.1 Human "19q13.2,19q13.2b" 19 0.04 0.19 0.06 0.06 Homo sapiens C__11977294_20 CYP2A13 CPAD|CYP2A "CYP2A13*1H,g.2366C>T" C/T rs1645691 hCV11977294 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 TCAGCTCAGCTCTCTCACCTGGGCA[C/T]ATGTTCCCATCCCCAACTTACCGTA 41596742 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.13 0 0.01 Homo sapiens C__33845966_20 CYP2A13 CPAD|CYP2A C/T hCV33845966 "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GCAACCCCAGCTCTATGAGATGTTC[C/T]CTTCGGTGATGAAACACCTGCCAGG 41597652 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__26824089_20 CYP2A13 CPAD|CYP2A C/T L321 rs3885816 hCV26824089 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GGTTTCCTGCTGCTCATGAAGCACC[C/T]AGAGGTGGAGGGTAAGACTGGAAAG 41599665 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816093_20 CYP2A13 CPAD|CYP2A "CYP2A13*3,g.5578A>C" A/C rs58426857 hCV34816093 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 ATCCCCTAAGTTCCTCCCTGTGCCT[A/C]CCCTGTGATTCTGACACAACCTGGT 41599954 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.05 0.05 0 Homo sapiens C__11507507_20 CYP2A13 CPAD|CYP2A "CYP2A13*1H,g.6424C>T|CYP2A13*2B,g.6424C>T|CYP2A13*3,g.6424C>T" C/T rs1709081 hCV11507507 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GGGCACCCTAGTTCCCCCTGCAGCC[C/T]CTGTGTACTTTCACCAATCCCCCCA 41600800 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.04 0.48 0.06 0.06 Homo sapiens C__11507504_10 CYP2A13 CPAD|CYP2A "CYP2A13*1H,g.6432C>T|CYP2A13*2B,g.6432C>T" C/T rs1645694 hCV11507504 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 TAGTTCCCCCTGCAGCCCCTGTGTA[C/T]TTTCACCAATCCCCCCAACCTGCCT 41600808 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.03 0.41 0.01 0.07 Homo sapiens C__25653730_10 CYP2A13 CPAD|CYP2A "CYP2A13*1F,g.6461T>A" A/T rs55916723 hCV25653730 "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 CACCAATCCCCCCAACCTGCCTCAT[A/T]ACACACACCTTCCTCCTCCCTCCCA 41600837 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__30283663_30 CYP2A13 CPAD|CYP2A A/T Y392 rs9916987 hCV30283663 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 CCTCCCTCCCAGGGCACTGAAGTGT[A/T]CCCTATGCTGGGCTCCGTGCTGAGA 41600877 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.01 0 0 Homo sapiens C___3291283_40 CYP2A13 CPAD|CYP2A "CYP2A13*1H,g.7233T>G|CYP2A13*2B,g.7233T>G|CYP2A13*3,g.7233T>G" G/T rs1709082 hCV3291283 Intron "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GAGTGCAGCCGGGGGTCAGTAGGGG[G/T]TGAGGCTGCACTGAGAGTGGGCTTC 41601609 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.08 0.44 0.06 0.07 Homo sapiens C__30634009_10 CYP2A13 CPAD|CYP2A "CYP2A13*5,g.7343T>A" A/T Y453 rs72547590 hCV30634009 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 GCCAGAATGGAGCTCTTTCTCTTCT[A/T]CACCACCATCATGCAGAACTTTCGC 41601719 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__33845974_30 CYP2A13 CPAD|CYP2A "CYP2A6*7,g.6558T>C" C/T T471 rs72547591 hCV33845974 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 AAGTCCCCTCAGTCGCCTAAGGATA[C/T]CGACGTGTCCCCCAAACACGTGGGC 41601773 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__33845975_50 CYP2A13 CPAD|CYP2A "CYP2A6*5,g.6582G>T" G/T V479 rs66497551 hCV33845975 Mis-sense Mutation "cytochrome P450, family 2, subfamily A, polypeptide 13" NM_000766 ATCGACGTGTCCCCCAAACACGTGG[G/T]CTTTGCCACGATCCCACGAAACTAC 41601797 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C___3291304_30 CYP2F1 C2F1|CYP2F|MGC126121 A/G P32 rs305968 hCV3291304 Silent Mutation "cytochrome P450, family 2, subfamily F, polypeptide 1" NM_000774 CAAGAGATAAGGGAAAGCTGCCTCC[A/G]GGACCCAGACCCCTCTCAATCCTGG 41622189 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.34 0.44 0.35 0.27 Homo sapiens C__25650083_20 CYP2F1 C2F1|CYP2F|MGC126121 C/T P38 rs58285195 hCV25650083 Mis-sense Mutation "cytochrome P450, family 2, subfamily F, polypeptide 1" NM_000774 GCTGCCTCCGGGACCCAGACCCCTC[C/T]CAATCCTGGGAAACCTGCTGCTGCT 41622205 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.02 0.14 0.06 0.01 Homo sapiens C__25653908_20 CYP2F1 C2F1|CYP2F|MGC126121 C/G P98 rs57670668 hCV25653908 Mis-sense Mutation "cytochrome P450, family 2, subfamily F, polypeptide 1" NM_000774 GACCAGGGAGAGGAGTTTAGTGGCC[C/G]CGGTGACTACCCTGCCTTTTTCAAC 41622481 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.01 0 0 0 Homo sapiens C__34816095_10 CYP2S1 UNQ891/PRO1906 "CYP2S1*1B,g.1300G>A" A/G P66 rs60694775 hCV34816095 Silent Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 CCCAGCTGAGTAAGAAGTACGGACC[A/G]GTGTTCACCATCTACCTGGGACCGT 41700469 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.01 0 0 0 Homo sapiens C___2333304_30 CYP2S1 UNQ891/PRO1906 "CYP2S1*1C,g.1324C>G|CYP2S1*1D,g.1324C>G" C/G P74 rs338599 hCV2333304 Silent Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 CGGTGTTCACCATCTACCTGGGACC[C/G]TGGCGGCCTGTGGTGGTCCTGGTTG 41700493 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.07 0.09 0.28 0.23 Homo sapiens C__25762209_20 CYP2S1 UNQ891/PRO1906 A/G G141 rs16975056 hCV25762209 Silent Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 TTGCTCTGCGGGACCTGGGCATGGG[A/G]AAGCGAGAAGGCGAGGAGCTGATCC 41703763 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0.04 0 0 Homo sapiens C__25762180_20 CYP2S1 UNQ891/PRO1906 "CYP2S1*1E,g.4624G>A" A/G A151 rs57266494 hCV25762180 Silent Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 GAGAAGGCGAGGAGCTGATCCAGGC[A/G]GAGGCCCGGTGTCTGGTGGAGACAT 41703793 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.03 0.02 0 0 Homo sapiens C__25600561_20 CYP2S1 UNQ891/PRO1906 A/G H166 rs45457494 hCV25600561 Mis-sense Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 TCCCTGCCCCCATTCCCCCCAGGAC[A/G]CCCATTCGATCCCTCCCTGCTGCTG 41704370 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__31639605_10 CYP2S1 UNQ891/PRO1906 A/G T205 rs11667569 hCV31639605 Mis-sense Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 GGAGTTCCAGGCCGTGGTCCGGGCA[A/G]CTGGTGGTACCCTGCTGGGAGTCAG 41704486 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__30572146_10 CYP2S1 UNQ891/PRO1906 C/T P230 rs8192795 hCV30572146 Mis-sense Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 ATGTTCTCCTGGTTCCTGCGGCCCC[C/T]GCCAGGCCCCCACAAGCAGCTCCTC 41704648 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__25600548_30 CYP2S1 UNQ891/PRO1906 C/T T353 rs61736647 hCV25600548 Silent Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 GGGACCGTACCCGCCTCCCTTACAC[C/T]GACGCGGTTCTGCATGAGGCGCAGC 41709437 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__34816097_10 CYP2S1 UNQ891/PRO1906 "CYP2S1*2,g.10347C>T" C/T C380 rs72547592 hCV34816097 Mis-sense Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 ACCCCGCACCCTCATGCGGACCACC[C/T]GCTTCCGAGGGTACACCCTGCCCCA 41709516 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__25762051_20 CYP2S1 UNQ891/PRO1906 "CYP2S1*3,g.13106C>T" C/T L466 rs34971233 hCV25762051 Mis-sense Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 CTACAAGCCTTCTCCCTGGAGAGCC[C/T]GTGCCCGCCGGACACCCTGAGCCTC 41712275 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0.04 0.01 0 0 Homo sapiens C__27469681_70 CYP2S1 UNQ891/PRO1906 A/C P471 rs3204724 hCV27469681 Mis-sense Mutation "cytochrome P450, family 2, subfamily S, polypeptide 1" NM_030622 CCTGGAGAGCCCGTGCCCGCCGGAC[A/C]CCCTGAGCCTCAAGCCCACCGTCAG 41712289 NCBI Build 37.1 Human "19q13.2b,19q13.2" 19 0 0 0 0 Homo sapiens C__27102414_10 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*2X3,g.4180G>C|CYP2D6*2X4,g.4180G>C|CYP2D6*2X5,g.4180G>C|CYP2D6*2XN,g.4180G>C|CYP2D6*30,g.4180G>C|CYP2D6*31,g.4180G>C|CYP2D6*32,g.4180G>C|CYP2D6*35,g.4180G>C|CYP2D6*35X2,g.4180G>C|CYP2D6*36 Dupl. or tandem,g.4180G>C|CYP2D6*36 Single,g.4180G>C|CYP2D6*36,g.4180G>C|CYP2D6*37,g.4180G>C|CYP2D6*39,g.4180G>C|CYP2D6*40,g.4180G>C|CYP2D6*41,g.4180G>C|CYP2D6*41A,g.4180G>C|CYP2D6*41B,g.4180G>C|CYP2D6*42,g.4180G>C|CYP2D6*45A,g.4180G>C|CYP2D6*45B,g.4180G>C|CYP2D6*46,g.4180G>C|CYP2D6*47,g.4180G>C|CYP2D6*49,g.4180G>C|CYP2D6*4A,g.4180G>C|CYP2D6*4B,g.4180G>C|CYP2D6*4C,g.4180G>C|CYP2D6*4D,g.4180G>C|CYP2D6*4E,g.4180G>C|CYP2D6*4F,g.4180G>C|CYP2D6*4G,g.4180G>C|CYP2D6*4H,g.4180G>C|CYP2D6*4K,g.4180G>C|CYP2D6*4L,g.4180G>C|CYP2D6*4N,g.4180G>C|CYP2D6*51,g.4180G>C|CYP2D6*52,g.4180G>C|CYP2D6*54,g.4180G>C|CYP2D6*55,g.4180G>C|CYP2D6*56A,g.4180G>C|CYP2D6*56B,g.4180G>C|CYP2D6*57,g.4180G>C|CYP2D6*58,g.4180G>C|CYP2D6*59,g.4180G>C|CYP2D6*6C,g.4180G>C|CYP2D6*8,g.4180G>C|CYP2D6*10A,g.4180G>C|CYP2D6*10B,g.4180G>C|CYP2D6*10D,g.4180G>C|CYP2D6*11,g.4180G>C|CYP2D6*12,g.4180G>C|CYP2D6*14A,g.4180G>C|CYP2D6*14B,g.4180G>C|CYP2D6*17,g.4180G>C|CYP2D6*19,g.4180G>C|CYP2D6*20,g.4180G>C|CYP2D6*21A,g.4180G>C|CYP2D6*21B,g.4180G>C|CYP2D6*28,g.4180G>C|CYP2D6*29,g.4180G>C|CYP2D6*2A,g.4180G>C|CYP2D6*2B,g.4180G>C|CYP2D6*2C,g.4180G>C|CYP2D6*2D,g.4180G>C|CYP2D6*2E,g.4180G>C|CYP2D6*2F,g.4180G>C|CYP2D6*2G,g.4180G>C|CYP2D6*2H,g.4180G>C|CYP2D6*2J,g.4180G>C|CYP2D6*2K,g.4180G>C|CYP2D6*2L,g.4180G>C|CYP2D6*2M,g.4180G>C|CYP2D6*2X13,g.4180G>C|CYP2D6*2X2,g.4180G>C" C/G S486|S435 PharmGKB:PA128 rs1135840 hCV27102414 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 AGCACAAAGCTCATAGGGGGATGGG[C/G]TCACCAGGAAAGCAAAGACACCATG 42522613 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.46 0.39 0.41 0.21 Homo sapiens C__32407220_60 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*18,g.4125_4133dupGTGCCCACT" AGTGGGCAC/- | PharmGKB:PA128 hCV32407220 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CCGGGGCTGTCCAGTGGGCAC[AGTGGGCAC/-]CGAGAAGCTGAAGTGCTGCAG 42522669 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32407223_60 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*1B,g.3828G>A" C/T S401|S350 PharmGKB:PA128 rs28371732 hCV32407223 Silent Mutation|Silent Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CCCAGACGGCCTCATCCTTCAGCAC[C/T]GATGACAGGTTGGTGATGAGTGTCG 42522965 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.01 0 0 0 Homo sapiens C__72649935_10 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*42,g.3259_3260insGT" AC/- G363VGV|V312GVG PharmGKB:PA128 rs72549346 hCV72649935 Frame Shift InDel|Frame Shift InDel "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 GGGACGATGTCCCCAAAGCGCTGC[AC/-]ACCTCATGAATCACGGCAGTGGTGT 42523534 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__72649936_10 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*56A,g.3201C>T|CYP2D6*56B,g.3201C>T" A/G | PharmGKB:PA128 hCV72649936 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TGAGCCTGGTCACCCATCTCTGGTC[A/G]CCGCACCTGCCCTATCACGTCGTCG 42523592 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__34816113_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*29,g.3183G>A" C/T M338|M287 PharmGKB:PA128 rs59421388 hCV34816113 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TCTGGTCGCCGCACCTGCCCTATCA[C/T]GTCGTCGATCTCCTGTTGGACACGG 42523610 NCBI Build 37.1 Human "22q13.2,22q13.2b" 22 0 0.09 0 0 Homo sapiens C__34816114_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*51,g.3172A>C" G/T A334|A283 PharmGKB:PA128 rs72549348 hCV34816114 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CACCTGCCCTATCACGTCGTCGATC[G/T]CCTGTTGGACACGGCCTGGACAGAC 42523621 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__34816116_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*2M,g.2988G>A|CYP2D6*41,g.2988G>A|CYP2D6*41A,g.2988G>A" C/T | PharmGKB:PA128 rs28371725 hCV34816116 Intron|Intron "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TTCATGGGCCCCCGCCTGTACCCTT[C/T]CTCCCTCGGCCCCTGCACTGTTTCC 42523805 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.11 0.04 0 0.02 Homo sapiens C__32407228_30 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*44,g.2950G>C" G/C | PharmGKB:PA128 rs72549349 hCV32407228 Intron|Intron "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CTGCACTGTTTCCCAGATGGGCTCA[G/C]GCTGCACATCCGGATGTAGGATCAT 42523843 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32388575_30 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*7,g.2935A>C" G/T P324|P273 PharmGKB:PA128 rs5030867 hCV32388575 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 GATGGGCTCACGCTGCACATCCGGA[G/T]GTAGGATCATGAGCAGGAGGCCCCA 42523858 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__27102422_10 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 A/G L311|L260 PharmGKB:PA128 rs1135830 hCV27102422 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CAGGAGGCCCCAGGCCAGCGTGGTC[A/G]AGGTGGTCACCATCCCGGCAGAGAA 42523897 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0.02 Homo sapiens C__27102425_10 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*2X4,g.2850C>T|CYP2D6*2X5,g.2850C>T|CYP2D6*2XN,g.2850C>T|CYP2D6*30,g.2850C>T|CYP2D6*31,g.2850C>T|CYP2D6*32,g.2850C>T|CYP2D6*34,g.2850C>T|CYP2D6*35,g.2850C>T|CYP2D6*35X2,g.2850C>T|CYP2D6*40,g.2850C>T|CYP2D6*41,g.2850C>T|CYP2D6*41A,g.2850C>T|CYP2D6*41B,g.2850C>T|CYP2D6*42,g.2850C>T|CYP2D6*45A,g.2850C>T|CYP2D6*45B,g.2850C>T|CYP2D6*46,g.2850C>T|CYP2D6*4K,g.2850C>T|CYP2D6*51,g.2850C>T|CYP2D6*55,g.2850C>T|CYP2D6*56A,g.2850C>T|CYP2D6*58,g.2850C>T|CYP2D6*59,g.2850C>T|CYP2D6*63,g.2850C>T|CYP2D6*8,g.2850C>T|CYP2D6*11,g.2850C>T|CYP2D6*12,g.2850C>T|CYP2D6*14A,g.2850C>T|CYP2D6*14B,g.2850C>T|CYP2D6*17,g.2850C>T|CYP2D6*19,g.2850C>T|CYP2D6*20,g.2850C>T|CYP2D6*21A,g.2850C>T|CYP2D6*21B,g.2850C>T|CYP2D6*28,g.2850C>T|CYP2D6*29,g.2850C>T|CYP2D6*2A,g.2850C>T|CYP2D6*2B,g.2850C>T|CYP2D6*2C,g.2850C>T|CYP2D6*2D,g.2850C>T|CYP2D6*2E,g.2850C>T|CYP2D6*2F,g.2850C>T|CYP2D6*2G,g.2850C>T|CYP2D6*2H,g.2850C>T|CYP2D6*2J,g.2850C>T|CYP2D6*2K,g.2850C>T|CYP2D6*2L,g.2850C>T|CYP2D6*2M,g.2850C>T|CYP2D6*2X13,g.2850C>T|CYP2D6*2X2,g.2850C>T|CYP2D6*2X3,g.2850C>T" A/G | PharmGKB:PA128 rs16947 hCV27102425 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 GAGAACAGGTCAGCCACCACTATGC[A/G]CAGGTTCTCATCATTGAAGCTGCTC 42523943 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.34 0.44 0.12 0.12 Homo sapiens C__32407229_60 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*9,g.2613_2615delAGA" TCT/- | PharmGKB:PA128 rs72549350 hCV32407229 Amino Acid InDel|Amino Acid InDel "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CCACCGTGGCAGCCACTCTCACCT[TCT/-]CCATCTCTGCCAGGAAGGCCTCAG 42524178 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.01 0 0 0 Homo sapiens C__32407230_30 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*38,g.2587-2590delGACT|CYP2D6*38,g.2587_2590delGACT" AGTC/- | PharmGKB:PA128 rs72549351 hCV32407230 Frame Shift InDel|Frame Shift InDel "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TCCATCTCTGCCAGGAAGGCCTC[AGTC/-]AGGTCTCGGGGGGGCTGGGCTGGG 42524203 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32407232_50 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*3A,g.2549delA|CYP2D6*3B,g.2549delA" T/- | PharmGKB:PA128 rs35742686 hCV32407232 Frame Shift InDel|Frame Shift InDel "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 GGCTGGGCTGGGTCCCAGGTCATCC[T/-]GTGCTCAGTTAGCAGCTCATCCAGC 42524244 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0.01 0 0 Homo sapiens C__32407233_50 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*19,g.2539_2542delAACT" -/AGTT | PharmGKB:PA128 hCV32407233 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 GGGTCCCAGGTCATCCTGTGCTC[-/AGTT]AGCAGCTCATCCAGCTGGGTCAGG 42524251 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32407234_40 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*33,g.2483G>T" A/C S237|S186 PharmGKB:PA128 rs28371717 hCV32407234 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TTTTGGAAGCGTAGGACCTTGCCAG[A/C]CAGCGCTGGGATATGCAGGAGGACG 42524310 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.02 0 0 0 Homo sapiens C__72649949_10 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*20,g.1973_1974insG" C/- G211E|E160G PharmGKB:PA128 rs72549354 hCV72649949 Frame Shift InDel|Frame Shift InDel "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 AAAGCCCGACTCCTCCTTCAGTCCC[C/-]TCCTGAGCTAGGTCCAGCAGCCTGA 42524820 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32407238_10 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*37,g.1943G>A" C/T | PharmGKB:PA128 hCV32407238 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 AGCTAGGTCCAGCAGCCTGAGGAAG[C/T]GAGGGTCGTCGTACTCGAAGCGGCG 42524850 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32407240_80 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*30,g.1863_1864insTTTCGCCCC|CYP2D6*40,g.1863_1864ins(TTTCGCCCC)2|CYP2D6*58,g.1863_1864insTTTCGCCCC" GGGGCGAAAGGGGCGAAA/- | PharmGKB:PA128 hCV32407240 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TGTCCAAGAGACCGTT[GGGGCGAAAGGGGCGAAA/-]GGGGCGAAAGGGGCGTC 42524930 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0.01 0 0 Homo sapiens C__34816123_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*4F,g.1858C>T" A/G | PharmGKB:PA128 hCV34816123 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 GCTTTGTCCAAGAGACCGTTGGGGC[A/G]AAAGGGGCGTCCTGGGGGTGGGAGA 42524935 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__27102431_D0 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*4A,g.1846G>A|CYP2D6*4B,g.1846G>A|CYP2D6*4C,g.1846G>A|CYP2D6*4D,g.1846G>A|CYP2D6*4E,g.1846G>A|CYP2D6*4F,g.1846G>A|CYP2D6*4G,g.1846G>A|CYP2D6*4H,g.1846G>A|CYP2D6*4J,g.1846G>A|CYP2D6*4K,g.1846G>A|CYP2D6*4L,g.1846G>A|CYP2D6*4M,g.1846G>A|CYP2D6*4N,g.1846G>A" C/T | PharmGKB:PA128 rs3892097 hCV27102431 Intron|Intron "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 AGACCGTTGGGGCGAAAGGGGCGTC[C/T]TGGGGGTGGGAGATGCGGGTAAGGG 42524947 NCBI Build 37.1 Human "22q13.2,22q13.2b" 22 0.19 0.07 0 0 Homo sapiens C_30634117C_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*14A,g.1758G>A|CYP2D6*14B,g.1758G>A|CYP2D6*8,g.1758G>A|CYP2D6*8,g.1758G>T" A/C | PharmGKB:PA128 rs5030865 hCV30634117 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TTGTGCCCTTCTGCCCATCACCCAC[A/C]GGAGTGGTTGGCGAAGGCGGCACAA 42525035 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C_30634117D_30 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*14A,g.1758G>A|CYP2D6*14B,g.1758G>A|CYP2D6*8,g.1758G>A|CYP2D6*8,g.1758G>T" T/C | PharmGKB:PA128 rs5030865 hCV30634117 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TTGTGCCCTTCTGCCCATCACCCAC[T/C]GGAGTGGTTGGCGAAGGCGGCACAA 42525035 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32407243_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6,g.1707T>G/C/A|CYP2D6*6A,g.1707T>del|CYP2D6*6A,g.1707delT|CYP2D6*6B,g.1707T>del|CYP2D6*6B,g.1707delT|CYP2D6*6C,g.1707T>del|CYP2D6*6C,g.1707delT|CYP2D6*6D,g.1707T>del|CYP2D6*6D,g.1707delT" A/- | PharmGKB:PA128 rs5030655 hCV32407243 Frame Shift InDel|Intron "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 AGGCAGGCGGCCTCCTCGGTCACCC[A/-]CTGCTCCAGCGACTTCTTGCCCAGG 42525086 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__34816127_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*2L,g.1513C>T|CYP2D6*41B,g.1513C>T" A/G | PharmGKB:PA128 rs67497403 hCV34816127 Intron|Intron "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 AACCCTATGCTCCCCCTGGTCTCCC[A/G]CAGTCCCTGGCTCTGTCCAGCTGGT 42525280 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C___2222771_40 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*17,g.1023C>T|CYP2D6*40,g.1023C>T|CYP2D6*58,g.1023C>T" G/A | PharmGKB:PA128 rs28371706 hCV2222771 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 ACGCGGCCCGAAACCCAGGATCTGG[G/A]TGATGGGCACAGGCGGGCGGTCGGC 42525772 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0.17 0 0 Homo sapiens C__25628689_40 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*2E,g.997C>G|CYP2D6*4A,g.997C>G|CYP2D6*4B,g.997C>G|CYP2D6*4F,g.997C>G|CYP2D6*4G,g.997C>G|CYP2D6*4H,g.997C>G|CYP2D6*4J,g.997C>G|CYP2D6*4L,g.997C>G|CYP2D6*4M,g.997C>G|CYP2D6*4N,g.997C>G" C/G T98|T98 PharmGKB:PA128 rs28371705 hCV25628689 Silent Mutation|Silent Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TGATGGGCACAGGCGGGCGGTCGGC[C/G]GTGTCCTCGCCGTGGGTCACCAGCG 42525798 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.19 0.07 0.02 0.04 Homo sapiens C__30634118_A0 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*11,g.883G>C" C/G | PharmGKB:PA128 hCV30634118 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 ACACGTCCCCGAAGCGGCGCCGCAA[C/G]TGCAGAGGGAGGGTCAGGGCCTCTT 42525912 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__27102437_60 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*21A,g.310G>T|CYP2D6*2L,g.310G>T|CYP2D6*2M,g.310G>T|CYP2D6*36 Single,g.310G>T|CYP2D6*45A,g.310G>T|CYP2D6*45B,g.310G>T|CYP2D6*46,g.310G>T|CYP2D6*4N,g.310G>T|CYP2D6*56B,g.310G>T|CYP2D6*57,g.310G>T|CYP2D6*58,g.310G>T" A/C | PharmGKB:PA128 rs28371699 hCV27102437 Intron|Intron "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CATGTATAAATGCCCTTCTCCAGGA[A/C]GTCCCCCAAACCTGCTTCCCCTTCT 42526484 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__32407245_40 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*15,g.137-138insT" -/A | PharmGKB:PA128 hCV32407245 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TGTGTTCTGGAAGTCCACATGCAGC[-/A]AGGTTGCCCAGCCCGGGCAGTGGCA 42526657 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0.01 0 0 Homo sapiens C__27531552_A0 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*12,g.124G>A" C/T R42|R42 PharmGKB:PA128 rs5030862 hCV27531552 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TCCACATGCAGCAGGTTGCCCAGCC[C/T]GGGCAGTGGCAGGGGGCCTGGTGGG 42526670 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__11484460_40 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*10A,g.100C>T|CYP2D6*10B,g.100C>T|CYP2D6*10D,g.100C>T|CYP2D6*14A,g.100C>T|CYP2D6*36 Dupl. or tandem,g.100C>T|CYP2D6*36 Single,g.100C>T|CYP2D6*36,g.100C>T|CYP2D6*37,g.100C>T|CYP2D6*47,g.100C>T|CYP2D6*49,g.100C>T|CYP2D6*4A,g.100C>T|CYP2D6*4B,g.100C>T|CYP2D6*4C,g.100C>T|CYP2D6*4D,g.100C>T|CYP2D6*4E,g.100C>T|CYP2D6*4F,g.100C>T|CYP2D6*4G,g.100C>T|CYP2D6*4H,g.100C>T|CYP2D6*4J,g.100C>T|CYP2D6*4K,g.100C>T|CYP2D6*4L,g.100C>T|CYP2D6*4N,g.100C>T|CYP2D6*52,g.100C>T|CYP2D6*54,g.100C>T|CYP2D6*56B,g.100C>T|CYP2D6*57,g.100C>T" A/G | PharmGKB:PA128 rs1065852 hCV11484460 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 CCGGGCAGTGGCAGGGGGCCTGGTG[A/G]GTAGCGTGCAGCCCAGCGTTGGCGC 42526694 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.21 0.17 0.5 0.33 Homo sapiens C__27102444_80 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*35,g.31G>A|CYP2D6*35X2,g.31G>A" C/T M11|M11 PharmGKB:PA128 rs769258 hCV27102444 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 AGGAGCAGGAAGATGGCCACTATCA[C/T]GGCCAGGGGCACCAGTGCTTCTAGC 42526763 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.07 0.01 0 0 Homo sapiens C__32407247_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*28,g.19G>A" C/T M7|M7 PharmGKB:PA128 rs72549358 hCV32407247 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 ATGGCCACTATCACGGCCAGGGGCA[C/T]CAGTGCTTCTAGCCCCATACCTGCC 42526775 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0 0 0 Homo sapiens C__27102448_30 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*21A,g.-740C>T|CYP2D6*21B,g.-740C>T|CYP2D6*2A,g.-740C>T|CYP2D6*2L,g.-740C>T|CYP2D6*2M,g.-740C>T|CYP2D6*41,g.-740C>T|CYP2D6*41A,g.-740C>T|CYP2D6*41B,g.-740C>T|CYP2D6*45B,g.-740C>T|CYP2D6*46,g.-740C>T|CYP2D6*51,g.-740C>T|CYP2D6*56A,g.-740C>T|CYP2D6*58,g.-740C>T" G/A | PharmGKB:PA128 rs28624811 hCV27102448 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TACACAGACTCACACTGACACTTAG[G/A]GCACACATTCTCTCTCACACACACC 42527533 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.33 0.41 0.11 0.12 Homo sapiens C__34816131_20 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*45A,g.-1011T>C" A/G | PharmGKB:PA128 rs59360719 hCV34816131 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 GGCTGCCTGAGGGTCGTCCTCCTCC[A/G]CTGCTTTCTGGCCTCCATGTTTCTG 42527804 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0 0.01 0 0 Homo sapiens C__32407252_30 CYP2D6 CPD6|CYP2D|CYP2DL1|CYPIID6|P450C2D|P450DB1|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|P450-DB1|MGC120389|MGC120390|RP4-669P10.2 "CYP2D6*21A,g.-1584C>G|CYP2D6*21B,g.-1584C>G|CYP2D6*2A,g.-1584C>G|CYP2D6*2L,g.-1584C>G|CYP2D6*2M,g.-1584C>G|CYP2D6*35,g.-1584C>G|CYP2D6*41,g.-1584C>G|CYP2D6*41A,g.-1584C>G|CYP2D6*42,g.-1584C>G|CYP2D6*45A,g.-1584C>G|CYP2D6*45B,g.-1584C>G|CYP2D6*46,g.-1584C>G|CYP2D6*51,g.-1584C>G|CYP2D6*56A,g.-1584C>G" G/C | PharmGKB:PA128 rs1080985 hCV32407252 | "cytochrome P450, family 2, subfamily D, polypeptide 6" NM_000106|NM_001025161 TAATTTTGTATTTTTTGTAGAGACC[G/C]GGTTCTTCCAAGTTGTCCAGGCTGG 42528382 NCBI Build 37.1 Human "22q13.2b,22q13.2" 22 0.2 0.06 0.18 0.18 Homo sapiens C___2416581_30 CYP8B1 CP8B|CYP12|FLJ17826 C/T rs735320 hCV2416581 "cytochrome P450, family 8, subfamily B, polypeptide 1" NM_004391 GCATGGTGCCAAAACCCCAGCGCTG[C/T]GGGTCAACATGGGGTAGTGGTGTGT 42915878 NCBI Build 37.1 Human "3p22.1a,3p22.1" 3 0.21 0.12 0 0 Homo sapiens C__25638666_30 CYP8B1 CP8B|CYP12|FLJ17826 A/G Y301 rs60487054 hCV25638666 Mis-sense Mutation "cytochrome P450, family 8, subfamily B, polypeptide 1" NM_004391 CTCACAGCCCGAATAGCTTCTGGGT[A/G]CTTCAGGAGGTACAAGAGGGCCCAG 42916408 NCBI Build 37.1 Human "3p22.1a,3p22.1" 3 0.01 0 0 0 Homo sapiens C___2416580_30 CYP8B1 CP8B|CYP12|FLJ17826 A/C G266 rs741817 hCV2416580 Silent Mutation "cytochrome P450, family 8, subfamily B, polypeptide 1" NM_004391 ACTTGTCCTGCATAGCTGAGGGTAC[A/C]CCCTGCTCCCTCAGAAACTGAAGCA 42916511 NCBI Build 37.1 Human "3p22.1a,3p22.1" 3 0 0.04 0 0 Homo sapiens C__25638664_10 CYP8B1 CP8B|CYP12|FLJ17826 C/T R238 rs35764459 hCV25638664 Mis-sense Mutation "cytochrome P450, family 8, subfamily B, polypeptide 1" NM_004391 CTGGCTGTGGCTCACGGAGAGCATC[C/T]TGTGAAAGAGACGCTGGAGTCGGCC 42916596 NCBI Build 37.1 Human "3p22.1a,3p22.1" 3 0 0.03 0 0 Homo sapiens C__25638656_10 CYP8B1 CP8B|CYP12|FLJ17826 A/G P88 rs9865715 hCV25638656 Mis-sense Mutation "cytochrome P450, family 8, subfamily B, polypeptide 1" NM_004391 TTTCTCTGTGTGTCCTTGAGGATGG[A/G]GCCAAAGGAGAGGGGGTCCATGACG 42917047 NCBI Build 37.1 Human "3p22.1a,3p22.1" 3 0 0.08 0 0 Homo sapiens C___8310267_30 ABCC10 MRP7|SIMRP7|EST182763|RP5-895C5.1 A/G | rs700008 hCV8310267 |UTR 5 "ATP-binding cassette, sub-family C (CFTR/MRP), member 10" NM_001198934|NM_033450 AGGTGAGGGGTATGTCTGGCTCCTG[A/G]GTCAGCCACGATGTGCCTCCTTGTC 43399837 NCBI Build 37.1 Human "6p21.1d,6p21.1" 6 0 0 0 0 Homo sapiens C__25941907_20 ABCC10 MRP7|SIMRP7|EST182763|RP5-895C5.1 A/G |D394 rs61740187 hCV25941907 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 10" NM_001198934|NM_033450 CTTGGCACTGCTGCTGGTACCCGTC[A/G]ACAAAGTGATTGCCACCCGCATCAT 43401027 NCBI Build 37.1 Human "6p21.1d,6p21.1" 6 0 0 0 0 Homo sapiens C__15883464_20 ABCC10 MRP7|SIMRP7|EST182763|RP5-895C5.1 C/T |L671 rs2277122 hCV15883464 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 10" NM_001198934|NM_033450 TGATGCACAGCTGTACAAGGAGGTG[C/T]TAGAAGCCTGCGCCCTCAATGATGA 43406501 NCBI Build 37.1 Human "6p21.1d,6p21.1" 6 0.04 0 0.06 0.07 Homo sapiens C__25935127_30 ABCC10 MRP7|SIMRP7|EST182763|RP5-895C5.1 C/T |F866 rs41281802 hCV25935127 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 10" NM_001198934|NM_033450 CTTAGCCATCCTCTTCTCTCTGCTT[C/T]TCATGCAAGGTGAGAGCGTGCCTGG 43412082 NCBI Build 37.1 Human "6p21.1d,6p21.1" 6 0 0.02 0 0 Homo sapiens C__16173668_10 ABCC10 MRP7|SIMRP7|EST182763|RP5-895C5.1 C/T |T920 rs2125739 hCV16173668 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 10" NM_001198934|NM_033450 ACAGCCCCCTCCTCACCACCCAGCA[C/T]CCCAGTGTTCCCACTGCCCAAAGCT 43412865 NCBI Build 37.1 Human "6p21.1,6p21.1d" 6 0.28 0.3 0.1 0.12 Homo sapiens C__15823752_20 ABCC10 MRP7|SIMRP7|EST182763|RP5-895C5.1 C/T |Y943 rs2125740 hCV15823752 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 10" NM_001198934|NM_033450 ACATCCGTTTCTACCTCACCGTGTA[C/T]GCGACCATTGCTGGTGTAAATTCCC 43412935 NCBI Build 37.1 Human "6p21.1d,6p21.1" 6 0 0.17 0 0 Homo sapiens C____433116_20 MAOA RP1-201D17__B.2 A/C R129 rs1800464 hCV433116 Silent Mutation monoamine oxidase A NM_000240 ATATTTGGATTACAATAATCTGTGG[A/C]GGACAATAGATAACATGGGGAAGGA 43571197 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0.09 0.5 0 0 Homo sapiens C__25642994_20 MAOA RP1-201D17__B.2 A/G Q172 rs58524323 hCV25642994 Mis-sense Mutation monoamine oxidase A NM_000240 TGTTCTATGAACAGGACTGCTAGGC[A/G]GTTTGCTTATCTTTTTGTGAATATC 43587431 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0.03 0 0 Homo sapiens C__27540727_30 MAOA RP1-201D17__B.2 C/T X296 rs72554632 hCV27540727 Nonsense Mutation monoamine oxidase A NM_000240 TCCAGCAGAGAGAAACCAGTTAATT[C/T]AGCGGCTTCCAATGGGAGCTGTCAT 43591031 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C__11617931_20 MAOA RP1-201D17__B.2 G/T V314 rs1799835 hCV11617931 Mis-sense Mutation monoamine oxidase A NM_000240 GTGCATGATGTATTACAAGGAGGCC[G/T]TCTGGAAGAAGAAGGGTAGGCTGCT 43591085 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C___8878820_20 MAOA RP1-201D17__B.2 A/T P342 rs1800465 hCV8878820 Silent Mutation monoamine oxidase A NM_000240 CAATAACCTTGGATGACACCAAGCC[A/T]GATGGGTCACTGCCTGCCATCATGG 43592016 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C__26251036_20 MAOA RP1-201D17__B.2 G/T hCV26251036 monoamine oxidase A NM_000240 TCTGTGAGCTCTATGCCAAAGTGCT[G/T]GGATCCCAAGAAGCTTTACATGTAA 43599964 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C___8878814_10 MAOA RP1-201D17__B.2 G/T I445 rs1803986 hCV8878814 Mis-sense Mutation monoamine oxidase A NM_000240 CTGCCACAAAGTGGAGCGGCTACAT[G/T]GAAGGGGCAGTTGAGGCTGGAGAAC 43603113 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C___8878813_20 MAOA RP1-201D17__B.2 C/T D470 rs1137070 hCV8878813 Silent Mutation monoamine oxidase A NM_000240 GTCTCGGGAAGGTGACCGAGAAAGA[C/T]ATCTGGGTACAAGAACCTGAATCAA 43603391 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0.33 0.29 0.48 0.4 Homo sapiens C___8878812_30 MAOA RP1-201D17__B.2 A/G R520 rs1800466 hCV8878812 Mis-sense Mutation monoamine oxidase A NM_000240 ACTGCCCTGGGGTTTGTGCTGTACA[A/G]ATACAAGCTCCTGCCACGGTCTTGA 43603735 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C__11617922_10 MAOB MGC26382|RP1-201D17__B.1 A/G P487 rs6324 hCV11617922 Silent Mutation monoamine oxidase B NM_000898 TCAGCCTGAGCAGGCCTGGCACGGA[A/G]GGCAAATGTCTCTCCAAAAAGGTGG 43626815 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0.01 0.05 0.23 0.07 Homo sapiens C__25642968_20 MAOB MGC26382|RP1-201D17__B.1 A/C rs72554633 hCV25642968 Intron monoamine oxidase B NM_000898 TAACAGCTTAGCATGCTTTTACTCT[A/C]CCTTCCATATTGAGTCAGGATCCCA 43634420 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C__22272188_10 MAOB MGC26382|RP1-201D17__B.1 C/T T202 rs7879356 hCV22272188 Silent Mutation monoamine oxidase B NM_000898 AATGGATGGGTACCTGTCCTCCATT[C/T]GTTGTCGAGATGATTCTTGTTGTGC 43656384 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0.17 0 0 Homo sapiens C__30966814_10 MAOB MGC26382|RP1-201D17__B.1 G/T S197 rs12845783 hCV30966814 Mis-sense Mutation monoamine oxidase B NM_000898 GTCCTCCATTTGTTGTCGAGATGAT[G/T]CTTGTTGTGCCTCCACACTGCTTCA 43656399 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C__32876931_10 MAOB MGC26382|RP1-201D17__B.1 G/T Q130 rs17852046 hCV32876931 Mis-sense Mutation monoamine oxidase B NM_000898 GGGAGCCTTCCATGGGGCATCACTC[G/T]GAATCTACATTCAGATGAGGATTCG 43661506 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C__32876912_10 MAOB MGC26382|RP1-201D17__B.1 C/T H38 rs17856663 hCV32876912 Mis-sense Mutation monoamine oxidase B NM_000898 AAGAGTGTAAGTCCTGCCTCCCACA[C/T]GGTCCCGGGCTTCCAGAACAACCAC 43702944 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C___2469257_40 MAOB MGC26382|RP1-201D17__B.1 A/C L28 rs12010260 hCV2469257 Silent Mutation monoamine oxidase B NM_000898 CCCGGGCTTCCAGAACAACCACATT[A/C]AGTCCAGAGTCATGCAGAAGTTTGG 43702973 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C___8878782_10 MAOB MGC26382|RP1-201D17__B.1 C/G rs1181251 hCV8878782 UTR 5 monoamine oxidase B NM_000898 TTCTGGGCCTCGATCCCAGTCCTGC[C/G]TGCCAGCCAGCCCGCCCGCCTGCCC 43741616 NCBI Build 37.1 Human "Xp11.3c,Xp11.3" X 0 0 0 0 Homo sapiens C__25761003_20 SLC29A1 ENT1|MGC1465|MGC3778 A/G P28|P28|P28|P28|P28 PharmGKB:PA154 rs8187630 hCV25761003 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TGCTGGGTCTGGGAACGCTGCTCCC[A/G]TGGAATTTTTTCATGACGGCCACTC 44197181 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0.01 0 0 Homo sapiens C__30634172_10 SLC29A1 ENT1|MGC1465|MGC3778 A/G S199|S199|S199|S199|S199 PharmGKB:PA154 rs8187640 hCV30634172 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TCACTGACACCACCCCAGGTGGCTC[A/G]GAGCTATCAGAAAGTGCCTTCGGCT 44198312 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0.01 0 0 Homo sapiens C__30634174_10 SLC29A1 ENT1|MGC1465|MGC3778 A/G L229|L229|L229|L229|L229 PharmGKB:PA154 rs8187642 hCV30634174 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TCTGTTACCTGGGCCTGCCCCGCCT[A/G]GTGAGTAAATGGAGGGAGCTGGGGT 44198402 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0.01 0 0 Homo sapiens C___2334580_30 SLC29A1 ENT1|MGC1465|MGC3778 C/T |||| PharmGKB:PA154 rs186556 hCV2334580 Intron|Intron|Intron|Intron|Intron "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TATCAAAGCCATCCTGAAAAATGTA[C/T]GTAGGGGAGGTTATCCTATCTTCTA 44199202 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0.07 0 0 Homo sapiens C__30634175_10 SLC29A1 ENT1|MGC1465|MGC3778 C/T C333|C333|C333|C333|C333 PharmGKB:PA154 rs8187633 hCV30634175 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 AACGTTACTTCATTCCTGTGTCCTG[C/T]TTCTTGACTTTCAATATCTTTGACT 44200105 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0.01 0 0 0 Homo sapiens C__34655626_10 SLC29A1 ENT1|MGC1465|MGC3778 -/A |||| PharmGKB:PA154 hCV34655626 Frame Shift InDel|Frame Shift InDel|Frame Shift InDel|Frame Shift InDel|Frame Shift InDel "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TGTCCTGTTTCTTGACTTTCAATAT[-/A]CTTTGACTGGTTGGGCCGGAGCCTC 44200123 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0 0 0 Homo sapiens C__30634176_10 SLC29A1 ENT1|MGC1465|MGC3778 A/G K391|K391|K391|K391|K391 PharmGKB:PA154 rs45458701 hCV30634176 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CCGCCGCTACCTGACTGTGGTCTTC[A/G]AGCACGATGCCTGGTTCATCTTCTT 44200655 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0 0 0 Homo sapiens C__25594634_60 SLC29A1 ENT1|MGC1465|MGC3778 A/C |||| PharmGKB:PA154 rs8187637 hCV25594634 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 TGCCTGCCTCCCTCCCTGTCTGCCT[A/C]CTGCCCCTTCCTTCTGCCAGGGGTG 44201311 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0 0 0 Homo sapiens C__11607209_20 SLC29A1 ENT1|MGC1465|MGC3778 A/G |||| PharmGKB:PA154 rs14623 hCV11607209 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CCTGATATACTCCATTCTCCCCTGC[A/G]CCTCCTCCTCTGTGTTCTCTCCATG 44201707 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0 0 0 Homo sapiens C__27471011_20 SLC29A1 ENT1|MGC1465|MGC3778 A/C |||| PharmGKB:PA154 rs3734703 hCV27471011 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CTCCTCCTCTGTGTTCTCTCCATGT[A/C]CCCCTCCCAACTCCCCATGCCCAGT 44201734 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0 0.22 0.37 Homo sapiens C___8311873_20 SLC29A1 ENT1|MGC1465|MGC3778 C/T |||| PharmGKB:PA154 rs1046309 hCV8311873 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3 "solute carrier family 29 (nucleoside transporters), member 1" NM_001078174|NM_001078175|NM_001078176|NM_001078177|NM_004955 CCCTCCCAACTCCCCATGCCCAGTT[C/T]TTACCCATCATGCACCCTGTACAGT 44201761 NCBI Build 37.1 Human "6p21.1c,6p21.1" 6 0 0 0 0 Homo sapiens C___8814556_30 SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 A/C PharmGKB:PA412 rs138056 hCV8814556 UTR 3 "sulfotransferase family 4A, member 1" NM_014351 CGGAGACCCCTTCCACAGCAGCGAC[A/C]CTCCTGACCACCACTTTGGGTGCTT 44220673 NCBI Build 37.1 Human "22q13.31a,22q13.31" 22 0.2 0.28 0.02 0.1 Homo sapiens C___8814557_1_ SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 A/G PharmGKB:PA412 rs138057 hCV8814557 UTR 3 "sulfotransferase family 4A, member 1" NM_014351 CCGCCCGCTGGAAGTCTCTGGCAGA[A/G]GGACGTCCATTCTGAAGACCTAGTG 44221247 NCBI Build 37.1 Human "22q13.31a,22q13.31" 22 0.23 0.28 0.05 0.07 Homo sapiens C__27468875_20 SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 A/C PharmGKB:PA412 rs3179394 hCV27468875 UTR 3 "sulfotransferase family 4A, member 1" NM_014351 TTAACCCTGAGATCTTTCTACCATT[A/C]GGGTGTGGCTCGCTCCTGATTCCCC 44221471 NCBI Build 37.1 Human "22q13.31a,22q13.31" 22 0 0 0 0 Homo sapiens C__34426572_10 SULT4A1 NST|BRSTL1|SULTX3|BR-STL-1|MGC40032|DJ388M5.3|hBR-STL-1 G/T S126 PharmGKB:PA412 rs17852027 hCV34426572 Silent Mutation "sulfotransferase family 4A, member 1" NM_014351 GGCAGAGGAGGTGCCAGCTTACCTT[G/T]GAGTCTCCATTGTGGAGGTCAGAGG 44235828 NCBI Build 37.1 Human "22q13.31a,22q13.31" 22 0 0 0 0 Homo sapiens C___3079502_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 C/T PharmGKB:PA386 rs11854484 hCV3079502 "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 ACAGTGGAGACTGGCACAGTGAACC[C/T]GGGGCTGGAGCTCATGGTAATCACC 45545478 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0.36 0.18 0.01 0.09 Homo sapiens C____331378_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 A/C R75 PharmGKB:PA386 rs1060896 hCV331378 Mis-sense Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 GAAGTTTCTGCAAAACACACGCCAG[A/C]TTGTTCAAGAAGATCCTGTTGGGCC 45554267 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0.33 0.16 0.01 0.12 Homo sapiens C__15960238_30 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 G/T W163 PharmGKB:PA386 rs2271437 hCV15960238 Mis-sense Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 TCCTTGGTTGGCCTTATACTGTGGT[G/T]GGCTTTAGACACAGCCCAAAGGCCA 45556120 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0 0.03 0.02 Homo sapiens C__25472750_20 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 C/T F177 PharmGKB:PA386 rs8023604 hCV25472750 Silent Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 AAAGGCCAGAGCAGCTGATCCCCTT[C/T]GCAGGAATCTGCATGTTCATCCTTA 45556163 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0.49 0 0 Homo sapiens C__25621522_20 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 C/G T245 PharmGKB:PA386 rs10519020 hCV25621522 Mis-sense Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 CTGAACTACACTGTGGCCGGCTCCA[C/G]TTTTGTCTTTGGGGATACACTGGTC 45557318 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0.21 0 0 Homo sapiens C__33987949_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 A/T S331 PharmGKB:PA386 rs17222036 hCV33987949 Silent Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 CCTACCTTGGGGACATGACACTCTC[A/T]GAAATCCATGCGGTGATGACTGGAG 45559703 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0 0 0 Homo sapiens C__25621489_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 C/T S355 PharmGKB:PA386 rs17215633 hCV25621489 Mis-sense Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 ACTGTGCTGGGAGCCTTCATAGCCT[C/T]TGGGGTAGGCATAGTCTGCTTGATC 45559774 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0.06 0 0 Homo sapiens C__33987950_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 A/G A380 PharmGKB:PA386 rs17215626 hCV33987950 Silent Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 GTGCTCTCGCCTCATCAAAGCTAGC[A/G]TATCCGGAAGTGGAGGAGTCCAAGT 45559935 NCBI Build 37.1 Human "15q21.1,15q21.1a" 15 0 0 0 0 Homo sapiens C__33987951_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 C/T I437 PharmGKB:PA386 rs17215591 hCV33987951 Silent Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 CCTTTTTGGCTGTGTTGGCCTTCAT[C/T]AATGCTGCCCTCTCCTGGCTGGGGG 45560519 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0 0 0 Homo sapiens C__33987952_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 C/T F462 PharmGKB:PA386 rs17222057 hCV33987952 Mis-sense Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 TTTCACTCAGGTCATCTGCTCCTAT[C/T]TCCTAAGGCCCATGGTTTTCATGAT 45561551 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0.01 0 0 Homo sapiens C__30284719_10 SLC28A2 CNT2|HCNT2|SPNT1|FLJ21468|HsT17153|MGC138252 A/G E509 PharmGKB:PA386 rs9635306 hCV30284719 Mis-sense Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" NM_004212 CAATACAAGAACAAACGTCTCTCTG[A/G]AATGGAGGAGTGGATTGAGGGAGAG 45561693 NCBI Build 37.1 Human "15q21.1a,15q21.1" 15 0 0 0 0 Homo sapiens C__25752871_20 CHST1 C6ST|KS6ST|KSGal6ST C/G S411 rs7115779 hCV25752871 Silent Mutation carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 NM_003654 GCCCCCACCCGCACCGCCCGGGTCA[C/G]GAGAAGGGGCGGAAGTCCCGCTCCT 45671241 NCBI Build 37.1 Human "11p11.2c,11p11.2" 11 0.01 0 0 0 Homo sapiens C__25751364_20 CHST1 C6ST|KS6ST|KSGal6ST A/G rs57330063 hCV25751364 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 NM_003654 GGTGCCGTATTTGTGCTTGCCCAGG[A/G]TGGGGTCGCCCCGCGTGTTGTTCTG 45671452 NCBI Build 37.1 Human "11p11.2c,11p11.2" 11 0 0.01 0 0 Homo sapiens C__25640322_20 CHST7 C6ST-2|RP1-71L16.8 C/T Y21 PharmGKB:PA26507 rs61575462 hCV25640322 Silent Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 NM_019886 AGTTCGCGCTGCTGTTGGTGCTGTA[C/T]ACGCTGGTGCTGTTGCTCGTCCCCT 46433429 NCBI Build 37.1 Human "Xp11.23f,Xp11.23" X 0 0.08 0 0 Homo sapiens C___2228477_30 CHST7 C6ST-2|RP1-71L16.8 A/G PharmGKB:PA26507 rs735716 hCV2228477 UTR 3 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 NM_019886 CACACTTTTACTTTAAAATTTTTCT[A/G]TCTGGCGTTTTTGTAATCATACTAT 46457786 NCBI Build 37.1 Human "Xp11.23f,Xp11.23" X 0.49 0.09 0.38 0.21 Homo sapiens C__25937173_30 CYP39A1 A/G A415T rs61742372 hCV25937173 Mis-sense Mutation "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 CCCAGCTGTCTCACTGACCTTGCAG[A/G]ACACTGGAACTTCCCGCTTCCAAAT 46554821 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0 0 0 0 Homo sapiens C__25940196_20 CYP39A1 G/T Q329 rs41273654 hCV25940196 Mis-sense Mutation "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 CGAATGGTTTCCAAAACACACCATT[G/T]AATTAGAAGGAGATTCTCCAGGTCA 46563804 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0.02 0 0 0 Homo sapiens C__25940203_30 CYP39A1 A/T K324 rs7761731 hCV25940203 Mis-sense Mutation "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 AAACACACCATTTAATTAGAAGGAG[A/T]TTCTCCAGGTCATCCTCAGACACTT 46563817 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0.34 0.32 0.39 0.33 Homo sapiens C__26334975_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha A/G | PharmGKB:PA280 rs881740 hCV26334975 Intron|Intron peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GTACAGTAGGAGGAGCAAGCCCAGG[A/G]CAGGTGAGTGGGTCAAGGGTGCCAG 46567388 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0.12 0.39 0.09 0.08 Homo sapiens C__33000641_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/T | PharmGKB:PA280 rs4253657 hCV33000641 Intron|Intron peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AATCCTAACACTTGGAAGGCTGAGG[C/T]AGGAGGACTGCTTGATCCTAGGAGG 46571941 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0.04 0 0 Homo sapiens C__33000642_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha A/C | PharmGKB:PA280 rs4253658 hCV33000642 Intron|Intron peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CTAGGAGGCAGAGGTTGCAAGGAGC[A/C]GAAATTGTGCCACTGTACTCCAGCC 46571984 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0.03 0.03 0 0 Homo sapiens C__33000643_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha A/C | PharmGKB:PA280 rs4253659 hCV33000643 Intron|Intron peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GAGGTTGCAAGGAGCCGAAATTGTG[A/C]CACTGTACTCCAGCCTGGGCAACAT 46571994 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0.03 0.08 0 0 Homo sapiens C__34657806_10 CYP39A1 A/G H288 rs17856332 hCV34657806 Mis-sense Mutation "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 TGGATATCAGGATGAGAAAGGACGT[A/G]TGCAAGTGTCCAAAATGCAACCTTA 46593224 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0.01 0 0 0 Homo sapiens C__31052375_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/T | PharmGKB:PA280 rs4253793 hCV31052375 UTR 5|UTR 5 peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GAGCTCGGCGGCACAACCAGCACCA[C/T]CTGGTCGCGATGGTGGACACGGAAA 46594271 NCBI Build 37.1 Human "22q13.31,22q13.31d" 22 0 0 0 0 Homo sapiens C__27951213_20 CYP39A1 C/G rs4410720 hCV27951213 Intron "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 CCACTTTTTGGATTTTGACCAGTTT[C/G]TACATGAGAAAAAATATATATAGAA 46604220 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0 0 0 0 Homo sapiens C__25939217_30 CYP39A1 A/C L201I rs61746081 hCV25939217 Mis-sense Mutation "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 TCTGGCAACTGGGACCCATACTCAA[A/C]ATCTTCATCATAAACTTGAAAATAC 46605603 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0 0 0 0 Homo sapiens C__11425332_30 CYP39A1 C/T H103 rs2277119 hCV11425332 Mis-sense Mutation "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 TATCTGAAAATATTCTTTACCTGTA[C/T]GATAAACGATATTTTGCACTGCTAG 46609905 NCBI Build 37.1 Human "6p12.3,6p12.3f" 6 0.27 0.19 0.19 0.2 Homo sapiens C__29700705_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/T A109|A109 PharmGKB:PA280 rs5767686 hCV29700705 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AATGTAGAATCTGCGGGGACAAGGC[C/T]TCAGGCTATCATTACGGAGTCCACG 46611188 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0 0 0 Homo sapiens C___8817669_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha A/G Q127|Q127 PharmGKB:PA280 rs1800204 hCV8817669 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GTATTACCCTCACAGGGCTTCTTTC[A/G]GCGAACGATTCGACTCAAGCTGGTG 46614170 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0 0 0 Homo sapiens C___8817670_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/G V162|V162 PharmGKB:PA280 rs1800206 hCV8817670 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CCAGTATTGTCGATTTCACAAGTGC[C/G]TTTCTGTCGGGATGTCACACAACGG 46614274 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0.03 0 0 0 Homo sapiens C___8817682_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/T A227|A227 PharmGKB:PA280 rs1800234 hCV8817682 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AACATGAACAAGGTCAAAGCCCGGG[C/T]CATCCTCTCAGGAAAGGCCAGTAAC 46615880 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0 0.05 0.02 Homo sapiens C___8817683_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/T N235|N235 PharmGKB:PA280 rs1800235 hCV8817683 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 TCATCCTCTCAGGAAAGGCCAGTAA[C/T]AATCCAGTAGGTGTTTGCGGCTGTT 46615905 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0.06 0 0 Homo sapiens C__25936442_20 CYP39A1 C/G V17 rs59926524 hCV25936442 Mis-sense Mutation "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 TTCTTCCGCTGAAGGAGTAAGAACA[C/G]AGCAAGGCAACCCAGGATTATAATC 46620271 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0 0.01 0 0 Homo sapiens C__25935630_20 CYP39A1 C/G rs66992975 hCV25935630 UTR 5 "cytochrome P450, family 39, subfamily A, polypeptide 1" NM_016593 TCCCAACCTTTCTGCTGCAACTTTT[C/G]CAGCTCTCCTTCGTAACTGTAGCTT 46620437 NCBI Build 37.1 Human "6p12.3f,6p12.3" 6 0 0 0 0 Homo sapiens C__33000704_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha -/T | PharmGKB:PA280 hCV33000704 | peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 ATGATATGGAGACACTGTGTATGGC[-/T]TGAGAAGACGCTGGTGGCCAAGCTG 46627727 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0 0 0 Homo sapiens C___8817692_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/G L254|L254 PharmGKB:PA280 rs1800236 hCV8817692 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CACTGTGTATGGCTGAGAAGACGCT[C/G]GTGGCCAAGCTGGTGGCCAATGGCA 46627739 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0 0 0 Homo sapiens C___8817693_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/T V268|V268 PharmGKB:PA280 rs1042311 hCV8817693 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 GCCAATGGCATCCAGAACAAGGAGG[C/T]GGAGGTCCGCATCTTTCACTGCTGC 46627780 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0 0 0 Homo sapiens C__32321396_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/T D301|D301 PharmGKB:PA280 rs4253773 hCV32321396 Silent Mutation|Silent Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CCATCCCAGGCTTCGCAAACTTGGA[C/T]CTGAACGATCAAGTGACATTGCTAA 46627880 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0.01 0 0 Homo sapiens C___8817694_10 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha A/G N304|N304 PharmGKB:PA280 rs1800242 hCV8817694 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 AGGCTTCGCAAACTTGGACCTGAAC[A/G]ATCAAGTGACATTGCTAAAATACGG 46627887 NCBI Build 37.1 Human "22q13.31,22q13.31d" 22 0 0 0 0 Homo sapiens C___8817704_20 PPARA PPAR|NR1C1|hPPAR|MGC2237|MGC2452|PPARalpha C/G T409|T409 PharmGKB:PA280 rs1800243 hCV8817704 Mis-sense Mutation|Mis-sense Mutation peroxisome proliferator-activated receptor alpha NM_001001928|NM_005036 CAGGAGGGTATTGTACATGTGCTCA[C/G]ACTCCACCTGCAGAGCAACCACCCG 46631096 NCBI Build 37.1 Human "22q13.31d,22q13.31" 22 0 0 0 0 Homo sapiens C__25762142_20 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 A/G V558 PharmGKB:PA327 rs35786590 hCV25762142 Mis-sense Mutation "solute carrier family 19 (folate transporter), member 1" NM_194255 CAGCTGGGGACAAGTCTCATCTGCA[A/G]CCTCAGGGCCTGAGGCTTGGGCGGA 46935675 NCBI Build 37.1 Human "21q22.3e,21q22.3" 21 0 0 0 0 Homo sapiens C__25622643_10 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 G/T I414 PharmGKB:PA327 rs57725551 hCV25622643 Silent Mutation "solute carrier family 19 (folate transporter), member 1" NM_194255 CCCGCACGTCCGAGACAATGAAAGT[G/T]ATGATGGTCTTGACGATGGTGGCAA 46945782 NCBI Build 37.1 Human "21q22.3e,21q22.3" 21 0 0.03 0 0.02 Homo sapiens C___9520092_10 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 A/G P232 PharmGKB:PA327 rs12659 hCV9520092 Silent Mutation "solute carrier family 19 (folate transporter), member 1" NM_194255 CGTGTCCCAGCTTCCCGCCTGGGCC[A/G]GGATTCATGCGCTCCAGCTCCGAAG 46951556 NCBI Build 37.1 Human "21q22.3e,21q22.3" 21 0.36 0.38 0.49 0.43 Homo sapiens C___9520102_30 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 C/G P82 PharmGKB:PA327 rs1051269 hCV9520102 Silent Mutation "solute carrier family 19 (folate transporter), member 1" NM_194255 GCAGGTAGTCGGTGAGCAGGAACAC[C/G]GGCACCAGCACGGCCAGGTAGGAGT 46952006 NCBI Build 37.1 Human "21q22.3e,21q22.3" 21 0.02 0.01 0.01 0 Homo sapiens C__25622646_10 SLC19A1 CHMD|FOLT|IFC1|REFC|RFC1 C/T PharmGKB:PA327 rs60881836 hCV25622646 Intron "solute carrier family 19 (folate transporter), member 1" NM_194255 GACCCTAGGGGGATGGCTTTCCTGC[C/T]GTAGCGGTGTTGGAAGGACCCACTC 46961496 NCBI Build 37.1 Human "21q22.3e,21q22.3" 21 0 0.08 0 0 Homo sapiens C__25599057_30 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 A/G K110|K110 PharmGKB:PA27119 rs7513658 hCV25599057 Silent Mutation|Silent Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 GATTGTCTCCTCCTGCAGACCCTAA[A/G]GCCCCTGATGTGTATGACTTCTTCC 47276819 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0.09 0 0 Homo sapiens C__25599115_20 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 "CYP4B1*3,c.517C>T|CYP4B1*6,c.517C>T" C/T W173|W173 PharmGKB:PA27119 rs4646487 hCV25599115 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 CCAGGACAAGTGGGAAGAGAAAGCT[C/T]GGGAGGGTAAGTCCTTTGACATCTT 47279175 NCBI Build 37.1 Human "1p33d,1p33" 1 0.09 0.17 0.17 0.28 Homo sapiens C__32287207_10 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 "CYP4B1*2,c.881_882delAT|CYP4B1*7,c.881_882delAT" AT/- | PharmGKB:PA27119 rs3215983 hCV32287207 Frame Shift InDel|Frame Shift InDel "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 CTATTATGCCTTCCCTAACCCAGG[AT/-]GAAGATGACATCAAACTGTCAGATG 47280747 NCBI Build 37.1 Human "1p33d,1p33" 1 0.11 0.09 0.34 0.19 Homo sapiens C__25599088_30 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 "CYP4B1*4,c.964A>G" A/G G322|G323 PharmGKB:PA27119 rs45467195 hCV25599088 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 GTTTGAAGGCCATGACACCACCACC[A/G]GTGGTATCTCCTGGTTTCTCTACTG 47280830 NCBI Build 37.1 Human "1p33d,1p33" 1 0.02 0 0 0 Homo sapiens C__31601814_10 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 A/C S329|S330 PharmGKB:PA27119 rs12094024 hCV31601814 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 ACCAGTGGTATCTCCTGGTTTCTCT[A/C]CTGCATGGCCCTGTACCCTGAGCAC 47280852 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0.07 0 0 Homo sapiens C__16187548_30 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 "CYP4B1*2,c.993G>A|CYP4B1*5,c.993G>A|CYP4B1*7,c.993G>A" G/A I331|I332 PharmGKB:PA27119 rs2297810 hCV16187548 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 GTATCTCCTGGTTTCTCTACTGCAT[G/A]GCCCTGTACCCTGAGCACCAGCATC 47280859 NCBI Build 37.1 Human "1p33d,1p33" 1 0.13 0.46 0.36 0.2 Homo sapiens C__33784778_10 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 "CYP4B1,c.1061T>G" G/T C354|C355 PharmGKB:PA27119 rs17102592 hCV33784778 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 CGCGAGATCCTAGGGGACCAGGACT[G/T]CTTCCAGTGGTGAGTCTGAGGGTGG 47280927 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0.08 0 0 Homo sapiens C__25599087_20 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 C/G S369|S370 PharmGKB:PA27119 rs59694031 hCV25599087 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 GGCAAAATGACTTATCTGACCATGT[C/G]CATCAAGGAGAGCTTCCGCCTCTAC 47282755 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0.02 0 0 Homo sapiens C__16187547_10 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 "CYP4B1*2,c.1123C>T" T/C C375|C376 PharmGKB:PA27119 rs2297809 hCV16187547 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 GACCATGTGCATCAAGGAGAGCTTC[T/C]GCCTCTACCCACCTGTGCCCCAGGT 47282772 NCBI Build 37.1 Human "1p33d,1p33" 1 0.11 0.17 0.32 0.19 Homo sapiens C__25599068_20 CYP4B1 CYPIVB1|P-450HP|RP4-732G19.1 A/G Q482|Q483 PharmGKB:PA27119 rs45622937 hCV25599068 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 4, subfamily B, polypeptide 1" NM_000779|NM_001099772 TTTGAGTTCTCTCTGGACCCCTCAC[A/G]GCTGCCCATCAAGATGCCCCAGCTT 47284395 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0.08 0 0 Homo sapiens C__25653683_10 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G F506 rs58897090 hCV25653683 Mis-sense Mutation "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 TCACAAGGGTTAGGGAGCCTCCTGA[A/G]ACGCAGGTGGATTCCATTTTTGGAT 47395831 NCBI Build 37.1 Human "1p33d,1p33" 1 0.02 0 0 0 Homo sapiens C__29503388_50 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G I487 rs9333036 hCV29503388 Silent Mutation "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 ACACAAGTCGTGCAATGGGGATGGG[A/G]ATCCTGGTGGGATCAGGCAGCAGCT 47395886 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0.08 0 0 Homo sapiens C__29792633_10 CYP4A11 CP4Y|CYP4A2|CYP4AII C/T P438 rs9333059 hCV29792633 Silent Mutation "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 AAGCGTGGCTGTGTTGAGCAGAACC[C/T]GGTGCAAAACGGAAAGGGTCAAACA 47398483 NCBI Build 37.1 Human "1p33d,1p33" 1 0.02 0 0 0 Homo sapiens C__25653690_10 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G rs58590117 hCV25653690 "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 GAGCTCTCTGCCAATGCCTGGCACC[A/G]GTGGGTAGAGCCTCAGTGCCTCCTT 47399686 NCBI Build 37.1 Human "1p33d,1p33" 1 0.04 0 0 0 Homo sapiens C__29454113_10 CYP4A11 CP4Y|CYP4A2|CYP4AII G/T I218 rs12759935 hCV29454113 Silent Mutation "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 GGTTGTTCAGGTCACTAATGGCCTG[G/T]ATGTAGGACTGAGAATTCCTGAGGG 47400808 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0 0 0 Homo sapiens C__30495132_10 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G I154 rs9333005 hCV30495132 Silent Mutation "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 CCATGAGCCCCACATAGGGCTTCAG[A/G]ATGTCATAGTGGAAGGCTGGGGTCA 47402384 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0.01 0 0 Homo sapiens C__26468267_10 CYP4A11 CP4Y|CYP4A2|CYP4AII C/T hCV26468267 "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 CATACCAATCCATGGAGCCAGGAAT[C/T]TGTAGGAACCATGGGATTTCGGGTC 47402994 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0 0 0 Homo sapiens C__25653675_20 CYP4A11 CP4Y|CYP4A2|CYP4AII A/G hCV25653675 "cytochrome P450, family 4, subfamily A, polypeptide 11" NM_000778 CGAACTTTGCCTCCCCATAGCCAAT[A/G]AGGACAGGCACTTGGGAATGTCTCC 47403743 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0 0 0 Homo sapiens C__25472757_30 CYP4A22 RP1-18D14.1 "CYP4A22*8,c.376C>T|CYP4A22*8,g.4124C>T|CYP4A22*9,c.376C>T|CYP4A22*9,g.4124C>T|CYP4A22*11,c.376C>T|CYP4A22*11,g.4124C>T|CYP4A22*12A,c.376C>T|CYP4A22*12A,g.4124C>T|CYP4A22*12B,c.376C>T|CYP4A22*12B,g.4124C>T|CYP4A22*13A,c.376C>T|CYP4A22*13A,g.4124C>T|CYP4A22*13B,c.376C>T|CYP4A22*13B,g.4124C>T|CYP4A22*14,c.376C>T|CYP4A22*14,g.4124C>T|CYP4A22*15,c.376C>T|CYP4A22*15,g.4124C>T" C/T |W126 rs12564525 hCV25472757 |Mis-sense Mutation "cytochrome P450, family 4, subfamily A, polypeptide 22" NM_000778|NM_001010969 TGGATCCTACAAATTCCTGGCTCCA[C/T]GGATTGGTATGTGTGCAAACTAGGA 47607281 NCBI Build 37.1 Human "1p33d,1p33" 1 0.13 0.2 0.38 0.27 Homo sapiens C__32332145_40 CYP4A22 RP1-18D14.1 C/T |Y158 rs2758715 hCV32332145 |Silent Mutation "cytochrome P450, family 4, subfamily A, polypeptide 22" NM_000778|NM_001010969 TCCACAATGACATCCTGAAGCCATA[C/T]GTGGGGCTCATGGCAGACTCTGTAC 47607871 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0 0 0 Homo sapiens C__27466394_20 CYP4A22 RP1-18D14.1 T/C | hCV27466394 | "cytochrome P450, family 4, subfamily A, polypeptide 22" NM_000778|NM_001010969 TCTCCGCCTGGCCCAGGAACTGCAT[T/C]GGGAAACAATTTGCCATGAACCAGC 47614283 NCBI Build 37.1 Human "1p33d,1p33" 1 0 0 0 0 Homo sapiens C__25973452_20 ABCC12 MRP9|MGC27071 A/T L1349 rs12373105 hCV25973452 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TGACTTCTGCTGCTAGTAACATCGC[A/T]AATGCAGAATCTGGCTTCTCTGCAA 48117659 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.01 0.01 0 0 Homo sapiens C__25973247_20 ABCC12 MRP9|MGC27071 A/G D1223 rs16945786 hCV25973247 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TCTCCAGAACCTGCCAGAGCATCTC[A/G]TCGGTGTGACTCTCAAAGGGATCCA 48120697 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.21 0 0 Homo sapiens C__25959354_20 ABCC12 MRP9|MGC27071 G/T A1191 rs16945787 hCV25959354 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 CACAGTCAGCTTGGTTCTGAGGTCT[G/T]CCAAGCTGAGAATGCAGATATCCAC 48121900 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.05 0 0 Homo sapiens C__25959381_20 ABCC12 MRP9|MGC27071 A/G T1187 rs34106426 hCV25959381 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GGTTCTGAGGTCTTCCAAGCTGAGA[A/G]TGCAGATATCCACCTCATCAATAAA 48121912 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.1 0 0 Homo sapiens C__25965593_20 ABCC12 MRP9|MGC27071 A/G C1117 rs7193955 hCV25965593 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TAGTCTCTGAAGGTGATCTCCCCAC[A/G]GCTGGGCCAGTCCTTGGGACAGGTC 48122582 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.21 0.23 0.06 0.13 Homo sapiens C__11660643_40 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1,c.1498C>T" A/G S500 rs5584 hCV11660643 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GGATCCATCTGCTCCCTGTGTCATG[A/G]GCGGATGCGGTAGCGGACGGGCACG 48124462 NCBI Build 37.1 Human "20q13.13,20q13.13d" 20 0 0 0 0 Homo sapiens C__30633987_10 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1*4,c.1135C>A" G/T S379 rs56195291 hCV30633987 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GGGAAGAGGAGGAGGCGGTCACCAC[G/T]TCGCAGGTTGAATTCTCGCCCGTCT 48129688 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__11194241_30 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1*1B,c.1117A>C|CYP8A1*1C,c.1117A>C|CYP8A1*2,c.1117A>C|CYP8A1*3,c.1117A>C|CYP8A1*4,c.1117A>C" G/T R373 rs5629 hCV11194241 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 TCACCACGTCGCAGGTTGAATTCTC[G/T]CCCGTCTGCCATGGGCATGGCCAGG 48129706 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0.34 0.09 0.18 0.25 Homo sapiens C__25962364_30 ABCC12 MRP9|MGC27071 C/T X1024 rs36102575 hCV25962364 Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GAGGACATCCATTCTCAGCGCAAAC[C/T]ACCTGAGAGCACAGTTAAAGTAGAG 48130781 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.02 0.01 0 0 Homo sapiens C__25968359_30 ABCC12 MRP9|MGC27071 A/G rs6500304 hCV25968359 "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GGCAGGGCCCCACATGGGACTCACT[A/G]GGTGATGCAGCTCTCCTTCTTGCCA 48134784 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.23 0 0 Homo sapiens C__25967886_20 ABCC12 MRP9|MGC27071 C/T V1000 rs59000493 hCV25967886 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TCCTTCTTGCCATAGGCGTGAATGA[C/T]GCCCAGGCCCTGCATGGAGGAGGTG 48134823 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.02 0 0 Homo sapiens C__25967845_20 ABCC12 MRP9|MGC27071 A/G S993 rs41280921 hCV25967845 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GAATGATGCCCAGGCCCTGCATGGA[A/G]GAGGTGATGTGGGTGAACCAGGGTG 48134842 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.01 0 0 0 Homo sapiens C__25967805_20 ABCC12 MRP9|MGC27071 A/T S989 rs6500305 hCV25967805 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 CCCTGCATGGAGGAGGTGATGTGGG[A/T]GAACCAGGGTGACCGGCTGACATTC 48134856 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.21 0 0 Homo sapiens C__25972550_20 ABCC12 MRP9|MGC27071 A/G S898 rs9925287 hCV25972550 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TGCCAGTGGGAGTCGTGTCAAAGAA[A/G]CTCATTGGGCTCTTTAAGATCTGTG 48138259 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.21 0 0 Homo sapiens C__25972585_20 ABCC12 MRP9|MGC27071 A/T M894 rs8057474 hCV25972585 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 CGTGTCAAAGAAACTCATTGGGCTC[A/T]TTAAGATCTGTGGAGAATGGTAGAG 48138272 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.07 0 0 Homo sapiens C__11660633_30 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1,c.706C>T" A/G C236 rs5626 hCV11660633 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GCTGGGGATAGCAGCTTCCACAGGC[A/G]ACTTTTGACACTGCACATGTGGTCC 48140744 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0.01 0 0 Homo sapiens C__31520735_10 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 G/T T227 rs13306030 hCV31520735 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 ACTTTTGACACTGCACATGTGGTCC[G/T]TGTCCCCTGCAGGGACAGAGCACAG 48140770 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__25957098_20 ABCC12 MRP9|MGC27071 C/T rs61742618 hCV25957098 "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 AGGGATGGGATTCTAACCGATTATA[C/T]CAGCATCTTCCTCTCTCTCAGCAGG 48145497 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0 0 0 Homo sapiens C__25961417_20 ABCC12 MRP9|MGC27071 A/T V690 rs34135219 hCV25961417 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 CAGTTTTGCATAGCGCCCTCTCTCC[A/T]CCATTAACTCCTTGTGGGTTCCCTT 48145742 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.01 0.09 0 0 Homo sapiens C__25965826_10 ABCC12 MRP9|MGC27071 A/G rs61746654 hCV25965826 "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 CAGGACGACTGTCTTTCCCCTGAGC[A/G]TCTTCTTAATGCACTCCTCAAAGAC 48149369 NCBI Build 37.1 Human "16q12.1,16q12.1a" 16 0 0 0 0 Homo sapiens C__25966457_20 ABCC12 MRP9|MGC27071 A/G A616 rs9302750 hCV25966457 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GGTAGAGCTGACGGTCGGAGTAGAC[A/G]GCGCGGGCCAGGCTAATCCTCTGCC 48149467 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.21 0 0 Homo sapiens C__25941497_20 ABCC12 MRP9|MGC27071 A/T Y587 rs16945816 hCV25941497 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TCAGTCAGGTCTCCATAGGGGAGGT[A/T]GCTCAGGTCCTTCTGGAGGCCACAG 48151198 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.14 0.01 0 Homo sapiens C__11660628_20 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G R197 rs5625 hCV11660628 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 TGTGGAAGACATCAGCTGAGTGGAC[A/G]CGGTCCTGGGCCTGGCTTTCATGGG 48156189 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0.02 0.03 0 Homo sapiens C__25981922_20 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G Y177 rs61322884 hCV25981922 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GCGCCTCAATTCCGTAAAGAGTCAG[A/G]TAGCCGGCTCTGGGGGCGGCAGACA 48156249 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0.04 0.04 0 0 Homo sapiens C__11660623_30 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1,c.511T>C" A/G L171 rs5624 hCV11660623 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GCTGCACAGCCTCACCTGAGCAGGA[A/G]GCTGTAGGAGAAGTCGAGGAGACCC 48160852 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__11660622_20 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1,c.461A>C" G/T A154 rs5623 hCV11660622 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 CATCTCGTGCCAGCCACTGCCTGCT[G/T]CTGTAGCATCGCCCAACAGCACTGC 48160902 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__31520713_10 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G T140 rs13306023 hCV31520713 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 CAGCACTGCATGGAGGTTGGTATAC[A/G]TGGCTTCTGTGAGTGCCTGGAGCTC 48160944 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__29596961_10 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/C H134 rs6067121 hCV29596961 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 TGGTATACATGGCTTCTGTGAGTGC[A/C]TGGAGCTCTCTGTGGAGAAGAGTCC 48160961 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__11660621_40 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1*3,c.354T>A" A/T R118 rs5622 hCV11660621 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 ACAGTTTCATCCTGGCCTTTTCATC[A/T]CTGGGGCTGTAATGTGGAAGCTGCA 48164401 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0.02 0 0 Homo sapiens C__11660617_30 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/C V86 rs5621 hCV11660617 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 CGAGCCTGGTGCGAGGCTCCCACAC[A/C]ACCGCGTCGTAGGAGTGTGGGTCCA 48164497 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__31520711_10 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/C G69 rs11699426 hCV31520711 Mis-sense Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 GAGAACGGTGACATACCTGCCCCCA[A/C]CCAGTATCTGTGGGAAGTTGCCAGG 48164549 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__25942050_20 ABCC12 MRP9|MGC27071 C/T V386 rs12149826 hCV25942050 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GCAAGATTGCAATGGAAAACTTCAT[C/T]ACATTAAACATGGCAATCACACTAA 48164777 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.35 0.08 0 0 Homo sapiens C__30633986_20 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 "CYP8A1*2,c.113C>T" A/G hCV30633986 prostaglandin I2 (prostacyclin) synthase NM_000961 AAAGTCCAAGGCATACCCCAACCAG[A/G]GGATGCTGCCCAGGTCCAGGGGAGG 48166688 NCBI Build 37.1 Human "20q13.13,20q13.13d" 20 0 0 0 0 Homo sapiens C__33660976_10 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G hCV33660976 prostaglandin I2 (prostacyclin) synthase NM_000961 AGGTCCAGGGGAGGCTCACCAGGTC[A/G]CCTACAGAAGCCATGGCACTTGTCA 48166725 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__25957795_20 ABCC12 MRP9|MGC27071 C/T T357 rs61746397 hCV25957795 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TGGCAGGATAATGTCAGCACGATGG[C/T]TATGGTGGACACGATGGGGGCCAGG 48167657 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0 0 0 Homo sapiens C__25936251_20 ABCC12 MRP9|MGC27071 A/C rs58567530 hCV25936251 "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 ATTTCTCCCAGGCATACATTTTGAT[A/C]AGCCTGATGCAGGTCAGAAACTCAT 48172185 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.03 0 0 Homo sapiens C__25957356_20 ABCC12 MRP9|MGC27071 A/G rs16945872 hCV25957356 "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 TGGCAAAAAGGGCTATGCACAGTCC[A/G]ATGCCAACCCAGACTTTCCCAGAGG 48174766 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.11 0 0 Homo sapiens C__25932964_20 ABCC12 MRP9|MGC27071 G/T E102 rs16945874 hCV25932964 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 AGAGGCCTTCTCAGGACCCACCCTT[G/T]CTACCTCTTCATCCCAAAGGACTCG 48175235 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.05 0.29 0 0 Homo sapiens C__25963394_20 ABCC12 MRP9|MGC27071 A/G rs60702908 hCV25963394 "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 CCGGCGTGAGCCAGGAAAATGTGGC[A/G]AAGGAGAGTAGCCCGGCATCATCCA 48177934 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.09 0 0 Homo sapiens C__25971140_10 ABCC12 MRP9|MGC27071 C/T N26 rs60315991 hCV25971140 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GGGATCATGGTCTTCAGGCTGGGGT[C/T]ATATCTTTCTGCAAAGGATCTCCGC 48180260 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.09 0 0 Homo sapiens C__25970620_30 ABCC12 MRP9|MGC27071 G/T L9 rs16945901 hCV25970620 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 CGGCCTCGCTGGTCCAGATCTGAGA[G/T]AAGGTAGGGTCCTTCACCCACCATC 48180311 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.11 0 0 Homo sapiens C__25970002_20 ABCC12 MRP9|MGC27071 A/G rs16945903 hCV25970002 UTR 5 "ATP-binding cassette, sub-family C (CFTR/MRP), member 12" NM_033226 GGCCTGGGGACACTTTCACTCTATG[A/G]CAGAGAAATGGCAAAGGTTATTGAG 48180391 NCBI Build 37.1 Human "16q12.1,16q12.1a" 16 0 0.11 0 0 Homo sapiens C__11660605_50 PTGIS CYP8|PGIS|PTGI|CYP8A1|MGC126858|MGC126860 A/G L17 rs5583 hCV11660605 Silent Mutation prostaglandin I2 (prostacyclin) synthase NM_000961 CGCGTGCGGCGGCGGCTCAGTAGCA[A/G]CAGCAGCAACAGTGCGGCCAGGAGG 48184605 NCBI Build 37.1 Human "20q13.13d,20q13.13" 20 0 0 0 0 Homo sapiens C__25992470_20 ABCC11 WW|EWWD|MRP8 C/T || rs16945916 hCV25992470 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 CTTCCCATTGCCCATAACCAGGATG[C/T]GGTCACAGTTCAGCACAGTGGTGAC 48201432 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.12 0.34 0 0.08 Homo sapiens C__25998038_20 ABCC11 WW|EWWD|MRP8 C/T || rs60681475 hCV25998038 Intron|Intron|Intron "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 GCAGCTTTTTGGGGAACTTTGAGAT[C/T]TGCGATATGGGAAGAAGAGACAACA 48204130 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.05 0 0 0 Homo sapiens C__25992344_20 ABCC11 WW|EWWD|MRP8 C/T || rs59029650 hCV25992344 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 GAGGATGTGGGAGAATAAAGGAGAC[C/T]GGCTATAGTTCTCCAGTCTCTTGAA 48220951 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.04 0 0 Homo sapiens C__25997035_20 ABCC11 WW|EWWD|MRP8 C/T |V970|V970 rs41280943 hCV25997035 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 ATATAATAAATGAAGCAAATAACCA[C/T]GATTATGGCTCCCATTAACAGGATA 48221137 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.02 0.02 0 0 Homo sapiens C__25993390_20 ABCC11 WW|EWWD|MRP8 C/T || rs12443685 hCV25993390 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 GGGCCGTGGATGCCTTCCTCGTGAC[C/T]TTGGTGAAAATCCCTGAGGAGCAGA 48226479 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.23 0.1 0.01 0.02 Homo sapiens C___1232182_10 ABCC11 WW|EWWD|MRP8 A/G || rs11866251 hCV1232182 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 TCGTTAAGAAGACGATCAGCACCAC[A/G]AAGAAGAAAATTATGCAAGAGACCA 48227862 NCBI Build 37.1 Human "16q12.1,16q12.1a" 16 0.13 0.27 0 0.08 Homo sapiens C__33466117_10 ABCC11 WW|EWWD|MRP8 C/T |R735|R735 rs16945926 hCV33466117 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 GGCAGGACTCACCGAAGTGGCTTCC[C/T]TGTGCATCTTCTGGATAAGTTGGGC 48232065 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.02 0 0 Homo sapiens C__25995345_10 ABCC11 WW|EWWD|MRP8 C/T || rs16945930 hCV25995345 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 AGGTAGATCTGACGGTCGGAATAGA[C/T]GGCGCGGGCCAGGCTGATCCTCTGT 48234327 NCBI Build 37.1 Human "16q12.1,16q12.1a" 16 0.04 0 0.24 0.28 Homo sapiens C__25998821_20 ABCC11 WW|EWWD|MRP8 A/G || rs16945946 hCV25998821 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 ACCTCCTCCAGGATGGCTGACAACA[A/G]GCTGCTCTTACCACTCCCCGTGTTG 48242359 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.06 0 0 Homo sapiens C__25999323_20 ABCC11 WW|EWWD|MRP8 A/G || rs17822471 hCV25999323 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 CAACAGGCTGCTCTTACCACTCCCC[A/G]TGTTGCCGCAGACCCCTAACATCAT 48242379 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.08 0 0 0 Homo sapiens C__25993022_20 ABCC11 WW|EWWD|MRP8 C/T |Q529XXQ|X529QXQ rs61742020 hCV25993022 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 ACCTTGGACACCACCAGGTTGATCT[C/T]GTGCAACTCTGGGCCCAGGCTGTTC 48244882 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0 0 0 Homo sapiens C__25993765_20 ABCC11 WW|EWWD|MRP8 C/T || rs59815620 hCV25993765 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 CTCTCCAGCTCCAGTGCCCCATTGA[C/T]GATCCCGGGACAGGTCTGTTGCCAT 48244996 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.06 0 0 Homo sapiens C__25998046_20 ABCC11 WW|EWWD|MRP8 C/T |A414|A414 rs58759389 hCV25998046 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 AAGCCCCCCAAACCCTTACCATTGA[C/T]GCTGTGAGTTTCAGCTTTAAGGATG 48248798 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0.02 0 0 Homo sapiens C__25998672_20 ABCC11 WW|EWWD|MRP8 C/T || rs8047091 hCV25998672 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 GGACAAGCCCGCACTTCTCCAATAG[C/T]TTCCTTTCCTTCCTTCTTAGGTCTG 48248918 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.16 0.36 0 0.08 Homo sapiens C__25997420_20 ABCC11 WW|EWWD|MRP8 A/G |R279H|R279H rs61739612 hCV25997420 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 CGATGCGCAGGTGATCAGTACTAGG[A/G]GTCCATAGCACACCCCTTCAAACAG 48250140 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0 0 0 0 Homo sapiens C__25991703_20 ABCC11 WW|EWWD|MRP8 C/T || rs16945974 hCV25991703 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 CTGCTCGGAACCTGATGGCTGTGCG[C/T]TGGTTGATGATCCAACTGGAGGAGA 48256602 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.06 0.3 0 0.08 Homo sapiens C__25999969_20 ABCC11 WW|EWWD|MRP8 C/T || rs17822931 hCV25999969 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 TCACCAAGTCTGCCACTTACTGGCC[C/T]GAGTACACTGGCAATGCAGAAGCAG 48258198 NCBI Build 37.1 Human "16q12.1a,16q12.1" 16 0.14 0.02 0.05 0.33 Homo sapiens C__25999909_20 ABCC11 WW|EWWD|MRP8 C/T || rs16945988 hCV25999909 || "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" NM_032583|NM_033151|NM_145186 CATGTCATCGCCTATGTCGATGCCA[C/T]GATTCACGAGGCCACCAGAAGAGTT 48265777 NCBI Build 37.1 Human "16q12.1,16q12.1a" 16 0.06 0.27 0 0.03 Homo sapiens C__25474778_20 SULT2A1 HST|ST2|STD|hSTa|DHEAS|ST2A1|ST2A3|DHEA-ST C/T T261 PharmGKB:PA346 rs11569679 hCV25474778 Mis-sense Mutation "sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1" NM_003167 AATTTATCAAAGTCTTCAGCTTGGG[C/T]CACTGTGAAGTGATTTTTCCAGTCC 48374789 NCBI Build 37.1 Human "19q13.33a,19q13.33" 19 0 0.11 0 0 Homo sapiens C__31478584_10 SULT2A1 HST|ST2|STD|hSTa|DHEAS|ST2A1|ST2A3|DHEA-ST C/T E227 PharmGKB:PA346 rs11569680 hCV31478584 Mis-sense Mutation "sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1" NM_003167 CTCAGGAGGGAATAATTGGACATCT[C/T]GTTTTCTTTCATGCTCTGAAAGGAG 48377980 NCBI Build 37.1 Human "19q13.33a,19q13.33" 19 0 0.01 0 0 Homo sapiens C__25596963_20 SULT2A1 HST|ST2|STD|hSTa|DHEAS|ST2A1|ST2A3|DHEA-ST A/G F30 PharmGKB:PA346 rs11083907 hCV25596963 Silent Mutation "sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1" NM_003167 TTATTACATCTTCATCCCTTATCAC[A/G]AACTCATCACGTACTTTTCTTAAGG 48389425 NCBI Build 37.1 Human "19q13.33a,19q13.33" 19 0 0.09 0 0 Homo sapiens C__25596962_30 SULT2A1 HST|ST2|STD|hSTa|DHEAS|ST2A1|ST2A3|DHEA-ST C/T S2 PharmGKB:PA346 rs11569685 hCV25596962 Silent Mutation "sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1" NM_003167 TGCCTTCAAACCATAAGAAATCGTC[C/T]GACATGATGATGACCTCTTCCTGCG 48389509 NCBI Build 37.1 Human "19q13.33a,19q13.33" 19 0 0 0 0 Homo sapiens C__25611237_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/G K258|K258 PharmGKB:PA376 rs58534606 hCV25611237 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CCAGATGGTGGTGCAGCAGCTGCTG[A/G]AGGCATGGAGGAAGCAGGAAAAGCA 48736695 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0.01 0 0 0 Homo sapiens C__31810885_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 G/T I314|I314 PharmGKB:PA376 rs45617731 hCV31810885 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 ACCTTCGGCTCCAGCTTCCTCATCA[G/T]TGCCTGCTTCAAGCTTATCCAGGAC 48738418 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0 0 0 Homo sapiens C__31810882_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T I339|I339 PharmGKB:PA376 rs11568604 hCV31810882 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CCCACAGCATCCTGATCAGGTTTAT[C/T]TCCAACCCCATGGCCCCCTCCTGGT 48741060 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0 0 0.01 Homo sapiens C__25611224_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/G L490|L490 PharmGKB:PA376 rs11568602 hCV25611224 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 AATTGAAGGACTCGCGCATCAAGCT[C/G]ATGAGTGAGATCCTGAACGGCATCA 48744953 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0.01 0.05 0 0 Homo sapiens C__31810877_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/G |N607 PharmGKB:PA376 rs11568608 hCV31810877 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CTGAAACGGATCCAGCAATTCCTGA[A/G]CCAAGAGGAACTTGACCCCCAGAGT 48745828 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0.03 0 0 Homo sapiens C__31810875_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/C |P642 PharmGKB:PA376 rs11568599 hCV31810875 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 TCACCTGGGCCCAGGACCTGCCCCC[A/C]ACTCTGCACAGGTACCAGCTTCTCC 48746269 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0.01 0 0 0 Homo sapiens C__31810874_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/T |M718 PharmGKB:PA376 rs11568584 hCV31810874 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CTTTTCGGCAAAGCCCTGAACCCCA[A/T]GCGCTACCAGCAGACTCTGGAGGCC 48746801 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0 0 0 Homo sapiens C__25611238_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T |M809 PharmGKB:PA376 rs34675700 hCV25611238 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 TCTCCCCAGACGCGAGTGCTGGTGA[C/T]GCACGGCATTAGCTTCCTGCCCCAG 48750846 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0.01 0 0 0 Homo sapiens C__25472177_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T |S920 PharmGKB:PA376 rs35999272 hCV25472177 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CTCAGATGGGGAGGGACAGGGTCGG[C/T]CTGTACCCCGGAGGCACCTGGGTCC 48753035 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0.19 0 0 Homo sapiens C__31810867_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T |A1017 PharmGKB:PA376 rs11568587 hCV31810867 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CCCTGAGGCTGGGCGTCTATGCTGC[C/T]TTAGGAATTCTGCAAGGTGAGCTTG 48753435 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0 0 0 Homo sapiens C___7568026_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T | PharmGKB:PA376 rs967935 hCV7568026 |Intron "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 TGTTCAGGGTCCTTGTCCCTCCTTT[C/T]CCCTAAGCAGAAAACTGGCCCTGCC 48755388 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0.03 0.18 0.06 0.16 Homo sapiens C__31810862_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T |A1214 PharmGKB:PA376 rs11568582 hCV31810862 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 TGGTGCTCTTTGCTGCACTATTTGC[C/T]GTCATCGGGAGGAGCAGCCTGAACC 48755517 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0 0 0 Homo sapiens C__31810858_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/G |H1297 PharmGKB:PA376 rs11568591 hCV31810858 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 GTGGAGTTCCGGAATTATTCTGTGC[A/G]CTACCGGCCGGGCCTAGACCTGGTG 48761053 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0.09 0.01 0 0 Homo sapiens C__15885015_40 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T |H1314 PharmGKB:PA376 rs2277624 hCV15885015 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 TGAGAGACCTGAGTCTGCATGTGCA[C/T]GGTGGCGAGAAGGTACGCGTGGGGT 48761105 NCBI Build 37.1 Human "17q21.33,17q21.33b" 17 0.29 0.5 0.15 0.27 Homo sapiens C___2649487_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/G |L1336 PharmGKB:PA376 rs11568589 hCV2649487 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 GCAAGTCTTCCATGACCCTTTGCCT[A/G]TTCCGCATCCTGGAGGCGGCAAAGG 48761363 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0.01 0 0 0 Homo sapiens C__31810857_20 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 C/T |C1348 PharmGKB:PA376 rs11568588 hCV31810857 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CCTGGAGGCGGCAAAGGGTGAAATC[C/T]GCATTGATGGCCTCAATGTGGCAGA 48761397 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0.03 0 0 Homo sapiens C__31810856_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/G |R1365 PharmGKB:PA376 rs11568590 hCV31810856 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 ATCGGCCTCCATGACCTGCGCTCTC[A/G]GCTGACCATCATCCCGCAGGTAGGA 48761449 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0.01 0 0 Homo sapiens C__34105953_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 -/G | PharmGKB:PA376 rs72547579 hCV34105953 |Intron "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CTCTCAGCTGACCATCATCCCGCAG[-/G]TAGGAGCCTGGCATGGGCTGGCCAC 48761469 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0 0 0 Homo sapiens C__31810854_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/C | PharmGKB:PA376 rs45461799 hCV31810854 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 CCCCATCCTGTTCTCGGGGACCCTG[A/C]GCATGAACCTGGACCCCTTCGGCAG 48762097 NCBI Build 37.1 Human "17q21.33b,17q21.33" 17 0 0 0 0 Homo sapiens C__31810853_10 ABCC3 MLP2|MRP3|ABC31|MOAT-D|cMOAT2|EST90757|DKFZp686E22157 A/C |D1513 PharmGKB:PA376 rs11656685 hCV31810853 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 3" NM_001144070|NM_003786 GATTCTCCAGCCAACCTCATTGCAG[A/C]TAGAGGCATCTTCTACGGGATGGCC 48768515 NCBI Build 37.1 Human "17q21.33,17q21.33b" 17 0 0 0 0 Homo sapiens C__34255511_10 SULT2B1 HSST2 C/T | PharmGKB:PA36249 rs16982137 hCV34255511 |UTR 5 "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 GCCTGCTCCCTGCTCGTCCTCCCCT[C/T]CCCACCCTCACCCACCTGCCATGGA 49055489 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0.01 0 0 0 Homo sapiens C__16254898_30 SULT2B1 HSST2 C/T P25|P40 PharmGKB:PA36249 rs2544794 hCV16254898 Silent Mutation|Silent Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 TCCGGTACAAGGGCGTCCCCTTCCC[C/T]GTCGGCCTGTACTCGCTCGAGAGCA 49079246 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0.1 0.16 0 0.01 Homo sapiens C__34255546_10 SULT2B1 HSST2 C/T S36|S51 PharmGKB:PA36249 rs16982149 hCV34255546 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 CTGTACTCGCTCGAGAGCATCAGCT[C/T]GGCGGAGAACACCCAAGATGTGCGG 49079278 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0.02 0 0 0 Homo sapiens C___8833021_30 SULT2B1 HSST2 C/T A95|A110 PharmGKB:PA36249 rs1052124 hCV8833021 Silent Mutation|Silent Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 CCTGGTGTGAGACCATTGTGGGTGC[C/T]TTCAGCCTCCCGGACCAGTACAGCC 49090601 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0 0 0 0 Homo sapiens C__34255573_10 SULT2B1 HSST2 A/G K185|K200 PharmGKB:PA36249 rs16982159 hCV34255573 Silent Mutation|Silent Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 ACATTAAGGGCTGGCTTCGGATGAA[A/G]GGCAAAGACAACTTCCTATTTATCA 49096028 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0.01 0 0 0 Homo sapiens C__15758343_20 SULT2B1 HSST2 C/T L198|L213 PharmGKB:PA36249 rs2302948 hCV15758343 Silent Mutation|Silent Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 CTTCCTATTTATCACCTACGAGGAG[C/T]TGCAGCAGGTGAGTCCCCACCTCCT 49096065 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0.29 0.2 0.07 0.1 Homo sapiens C__15758350_30 SULT2B1 HSST2 A/G I225|I240 PharmGKB:PA36249 rs2302947 hCV15758350 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 GCTGGGCAAGGAGGCACTGGGCTCC[A/G]TCGTGGCACACTCAACCTTCAGCGC 49100068 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0 0 0.01 0 Homo sapiens C__25636736_20 SULT2B1 HSST2 C/G G287|G302 PharmGKB:PA36249 rs61748775 hCV25636736 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 CGATCGTGCCTACCGCAAGCAGATG[C/G]GGGGGATGCCGACCTTCCCCTGGGA 49102469 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0 0 0 0 Homo sapiens C__25636743_10 SULT2B1 HSST2 C/T L330|L345 PharmGKB:PA36249 rs17842463 hCV25636743 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 2B, member 1" NM_004605|NM_177973 ACCAGCCTGGAGCGTGAGCCCAGAC[C/T]CAACTCCAGCCCCAGCCCCAGCCCC 49102599 NCBI Build 37.1 Human "19q13.33b,19q13.33" 19 0.03 0 0 0 Homo sapiens C__29896254_10 GPX1 GSHPX1|MGC14399|MGC88245 C/T | PharmGKB:PA28949 rs8179168 hCV29896254 UTR 5|UTR 5 glutathione peroxidase 1 NM_000581|NM_201397 GAGCAGCACACATGGCGCAATTGTC[C/T]AAGAAGCCAGCGGAGCGCCCCGAAC 49395724 NCBI Build 37.1 Human "3p21.31c,3p21.31" 3 0 0 0 0 Homo sapiens C___7912052_40 GPX1 GSHPX1|MGC14399|MGC88245 G/A | PharmGKB:PA28949 rs1800668 hCV7912052 UTR 5|UTR 5 glutathione peroxidase 1 NM_000581|NM_201397 CAGCGGAGCGCCCCGAACAAGCACT[G/A]TAAGGGGAGGCCAGCAGGCGCCTCC 49395757 NCBI Build 37.1 Human "3p21.31c,3p21.31" 3 0.32 0.22 0.05 0.03 Homo sapiens C___8794665_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G | rs1050760 hCV8794665 UTR 3|UTR 3 "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 TTTGTATTACTTGATGATTATATAT[A/G]GTTTGTATTACCTGAATCTACAGGT 51502298 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C___8234730_1_ CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM "CYP19A1*2,g.32266G>T|CYP19A1*5,g.32266G>T" A/C | rs4646 hCV8234730 UTR 3|UTR 3 "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 TCTGGTGTGAACAGGAGCAGATGAC[A/C]AATAGCACCTAGCTTGGTGACAACC 51502844 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0.28 0.32 0.3 0.36 Homo sapiens C___8794666_10 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM G/T | rs1050677 hCV8794666 UTR 3|UTR 3 "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 CCCATAGGAGGTATGCCTATAAAAT[G/T]CCATGGGCCACTGAGTGTTCACTGT 51502893 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C___8234731_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM "CYP19A1*3A,g.32124C>T|CYP19A1*3B,g.32124C>T|CYP19A1*4F,g.32124C>T|CYP19A1*5,g.32124C>T" A/G | rs10046 hCV8234731 UTR 3|UTR 3 "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 CTACTGATGAGAAATGCTCCAGAGT[A/G]GGTACTGACCAGCCTTCTCTAGTGT 51502986 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0.46 0.2 0.48 0.46 Homo sapiens C__27530982_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G X457|X457 rs72552260 hCV27530982 Nonsense Mutation|Nonsense Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 CCTTGCAATGTCTTCACGTGGAATC[A/G]TCTCAGAAGTGTAACGAGGATGGCT 51503148 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C__27536428_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/T Y437|Y437 rs78310315 hCV27536428 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 CACCATGGCGATGTACTTTCCTGCA[C/T]AGCCACGGGGCCCAAAGCCAAATGG 51503207 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C___8794632_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G | hCV8794632 | "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 GCGATGTACTTTCCTGCACAGCCAC[A/G]GGGCCCAAAGCCAAATGGCTGAAAG 51503214 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C__15974722_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G P408|P408 rs2304461 hCV15974722 Silent Mutation|Silent Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 TTTCAAGAGTAAATTCATTGGGTTT[A/G]GGGAAAAACTCGAGTCTGTGCATCC 51504556 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0.05 0 Homo sapiens C__27528745_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G | hCV27528745 | "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 ATTACATCATCTTCTAAGGCTTTGC[A/G]CATGACCAAGTCCACGACAGGCTGG 51504657 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C__27859801_10 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/T | hCV27859801 | "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 AAGGCTTTGCGCATGACCAAGTCCA[C/T]GACAGGCTGGTACCGCATGCTCTCA 51504672 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C__34453655_10 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G S207|S207 rs17853490 hCV34453655 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 GTGAAAATTTCAGTACCGTCCAAAG[A/G]GATCCTCAAGAAGAGCGTGTTAGAG 51514555 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0 0 Homo sapiens C__25972590_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM "CYP19A1*3A,g.20538C>T|CYP19A1*3B,g.20538C>T" A/G | rs28757184 hCV25972590 | "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 GTCCAAAGGGATCCTCAAGAAGAGC[A/G]TGTTAGAGGTGTCCAGCATGACACG 51514572 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0.03 0.06 0 0 Homo sapiens C___8794674_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/T X108|X108 rs1803154 hCV8794674 Nonsense Mutation|Nonsense Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 AATCGAGAGCTGTAATGATTGTGCT[A/T]CATTATGTGGAACATACTTGAGGAC 51520105 NCBI Build 37.1 Human "15q21.2,15q21.2b" 15 0 0 0 0 Homo sapiens C___8794675_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/T V80|V80 rs700518 hCV8794675 Silent Mutation|Silent Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 TCCAGACTCGCATGAATTCTCCATA[C/T]ACCCGGTTGTAGTAGTTGCAGGCAC 51529112 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0.47 0.2 0.37 0.34 Homo sapiens C__25963215_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G | rs60308277 hCV25963215 | "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 CGATCCCCATCCACAGGAATCTGCC[A/G]TGGGAGATGAGGGGTCCAATTCCCA 51529166 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0.08 0 0 Homo sapiens C__15954948_40 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM "CYP19A1*2,g.115T>C" A/G R39|R39 rs2236722 hCV15954948 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 ATTGAGGATGTGCCCTCATAATTCC[A/G]CACCAAGAGAAAAAGGCCAGTGAGG 51534995 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0 0.03 0.03 Homo sapiens C__25967325_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM A/G L37|L37 rs58282176 hCV25967325 Silent Mutation|Silent Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 GATGTGCCCTCATAATTCCACACCA[A/G]GAGAAAAAGGCCAGTGAGGAGCAGG 51535001 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0.01 0 0 Homo sapiens C__25966795_20 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/G T14|T14 rs61203654 hCV25966795 Silent Mutation|Silent Mutation "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 CAGGCATGGCTTCAGGCACGATGCT[C/G]GTGATGTTATAATGTATCGGGTTCA 51535068 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0 0.01 0 0 Homo sapiens C___8794680_30 CYP19A1 ARO|ARO1|CPV1|CYAR|CYP19|MGC104309|P-450AROM C/G | rs1062033 hCV8794680 |Intron "cytochrome P450, family 19, subfamily A, polypeptide 1" NM_000103|NM_031226 ATCAGCAGGTGGGGCAGGCGGGGAA[C/G]TCAGGGAGCTTTTCCACATGCTAGG 51547938 NCBI Build 37.1 Human "15q21.2b,15q21.2" 15 0.49 0.15 0.34 0.35 Homo sapiens C___8714147_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | rs928169 hCV8714147 UTR 3|UTR 3 "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCGGAAATGTGCTGCGGGCTGGAGT[C/G]GGGGGGCTGAAAACAAGGAAAACAC 52507110 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0.46 0.5 0.36 0.44 Homo sapiens C___8714062_30 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | rs1051332 hCV8714062 UTR 3|UTR 3 "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCTCTGAGAGCCACTGCCAGGTAAA[C/T]AGATGCTCCCTTCGGGGTGCTGTGG 52507720 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0.46 0.13 0.35 0.32 Homo sapiens C____938311_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G M1434|M1227 rs60986317 hCV938311 Mis-sense Mutation|Mis-sense Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCTGTGCCGAGATGGCTTGTCGGAC[A/G]TCAGGGAGGACAGCGACACCTGGCT 52508989 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0.01 0 0.02 0 Homo sapiens C__11698022_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV11698022 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TCCACCTGAGGGGACTCACCACTTG[A/G]GCTGCAGGGATGAGAGCACCACAGA 52509735 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938307_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938307 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GAGGAGGCTGCCATGGCCGCTGAGC[C/T]CATCCAGGGCTGCAGCACAATGCCG 52509790 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27861219_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV27861219 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CACAATGCCGATGGGCATGAAGACA[C/T]CTGGGGAAGAAAGAACTCGCACTCA 52509831 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938305_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938305 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GAGCACAGTGGGTAAGAGCTGCCTA[C/T]CTGCTGCAATGGGTATCCCAACCAG 52511411 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938304_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | hCV938304 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CCAACCAGGTTATAAATCAGTGCCA[C/G]GACCAGGTTGATGCGTATCCTTCGG 52511454 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938303_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | hCV938303 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AATCAGTGCCAGGACCAGGTTGATG[C/G]GTATCCTTCGGACAGTCCTCTTGGA 52511468 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938301_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 G/T | hCV938301 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ACAGTCCTCTTGGAAAGGTGAATGC[G/T]AGCCACCACATCCAGCAAATCATTC 52511505 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__11698036_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV11698036 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AAGGTGAATGCTAGCCACCACATCC[A/G]GCAAATCATTCTGATGGAGAGGAGC 52511519 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27540374_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV27540374 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCCGGTGCCAATGGCCACACCCATG[C/T]CTGCCTGGGCCAAGGCCGGGGAGTC 52511679 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938299_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938299 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ACCCATGTCTGCCTGGGCCAAGGCC[A/G]GGGAGTCATTGACCCCATCCCCCAC 52511697 NCBI Build 37.1 Human "13q14.3,13q14.3b" 13 0 0 0 0 Homo sapiens C____938294_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/C | hCV938294 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TTGACCCCATCCCCCACCATGGCGA[A/C]TTTCTTCCCTTTATTCTGGAGCTCC 52511731 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__32302217_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/T | hCV32302217 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CCCACCATGGCGACTTTCTTCCCTT[A/T]ATTCTGGAGCTCCTGGACCTTGGCC 52511743 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__30383684_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 G/T | hCV30383684 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCGACTTTCTTCCCTTTATTCTGGA[G/T]CTCCTGGACCTTGGCCACCTTGTGC 52511752 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__30383685_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | hCV30383685 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TCTGGAGCTCCTGGACCTTGGCCAC[C/G]TTGTGCGAAGGCAGCACCTCTGCAA 52511771 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938293_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/C | hCV938293 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GTGCGAAGGCAGCACCTCTGCAAAG[A/C]CTTTGTTGATGCCAACCTAAGACAA 52511799 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__32302218_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 G/T | hCV32302218 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCAACATTAAAGGGCTGTACCTGGG[G/T]GGCAATAGCTCTGGCTGTCTTCCGG 52513192 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938289_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938289 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CGGTTGTCCCCCGTGATCAGAACCA[C/T]GTCCACACCCATGCTCTGCAGCGTG 52513240 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938282_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938282 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AGGATGGCTGTCTGTCCTTTCATCT[C/T]GTGGTCTGTCATAGCGTCACTGACA 52515256 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__32702214_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G T1148|T941 rs60431989 hCV32702214 Mis-sense Mutation|Mis-sense Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCGCCTCAGCCACTCACGGTTTCCA[A/G]TCAGCACAGAGAAGGTCTGGGGGAC 52515330 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0.01 Homo sapiens C__25607487_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T P1123P|P916P rs61733679 hCV25607487 Silent Mutation|Silent Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TGCCAGCCTCATTCAGGTGACTGGC[C/T]GGTGCACTCAAAGGGCGCTCACTGT 52516565 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__25607486_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T A1122|A915 rs59120265 hCV25607486 Silent Mutation|Silent Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CAGCCTCATTCAGGTGACTGGCCGG[C/T]GCACTCAAAGGGCGCTCACTGTGGG 52516568 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0.02 0 0 Homo sapiens C__30509392_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV30509392 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AGGGCGCTCACTGTGGGCCAGGATG[C/T]CTTCCACGTTGCTGACTTTGCACCC 52516602 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938273_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/T | hCV938273 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GGCCAGGATGCCTTCCACGTTGCTG[A/T]CTTTGCACCCAATTCCACAGCCTGG 52516617 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27859524_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV27859524 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CTGACTTTGCACCCAATTCCACAGC[C/T]TGGCACTGCCTGGAAGTCCGTGCAG 52516639 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938265_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938265 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GGTGACTGCCACGCCCAAGGGGTGT[C/T]CACTGCTGGCCTCCGCAGTCCCCAC 52518285 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938261_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938261 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GTGTTCACTGCTGGCCTCCGCAGTC[C/T]CCACCACAGCCAGAACCTTCCTGAG 52518306 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938260_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938260 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CACCACAGCCAGAACCTTCCTGAGG[A/G]GCAGTGTGGCCACATCCCCCAGCAG 52518333 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938256_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T K1038|K831 rs59959366 hCV938256 Mis-sense Mutation|Mis-sense Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CCCCAGCAGGAGCACCCGCATGACC[C/T]TGGGGACGCCATGGGTAATGGTGCC 52518375 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0.01 Homo sapiens C____938255_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/C | hCV938255 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GAGCACCCGCATGACCCTGGGGACG[A/C]CATGGGTAATGGTGCCAGTCTTGTC 52518384 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938252_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938252 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCCGTGCTACAGGCTGACCTTGTGC[A/G]CCATCTCCAGGGGCTTGCCTCCCTT 52520427 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__25607485_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T L1015|L808 rs1801248 hCV25607485 Silent Mutation|Silent Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ACAGGCTGACCTTGTGCGCCATCTC[C/T]AGGGGCTTGCCTCCCTTGATGAGGA 52520435 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0.01 0 0 0 Homo sapiens C__27541449_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV27541449 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CGTGGGCGTGGCCAGCCCCAGGGAG[C/T]AGGGGCAGGCAATGCACAGCACCGT 52520526 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938247_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G M977|M770 rs72552255 hCV938247 Mis-sense Mutation|Mis-sense Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCAGGGGCAGGCAATGCACAGCACC[A/G]TGATGGACGTCTGGAAAGCAAACCG 52520550 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938246_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938246 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CGTGATGGACGTCTGGAAAGCAAAC[C/T]GGATGATCACCTCTGTCTGGGAGAT 52520574 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938245_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/T F967|F760 rs60003608 hCV938245 Mis-sense Mutation|Mis-sense Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GACGTCTGGAAAGCAAACCGGATGA[A/T]CACCTCTGTCTGGGAGATGTGCTTG 52520581 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0.02 0.02 Homo sapiens C__32702225_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV32702225 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCAAACCGGATGATCACCTCTGTCT[A/G]GGAGATGTGCTTGTTGGGGTTCTGA 52520593 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938208_30 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | rs732774 hCV938208 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AGGCATTCAACTTACAGGAAAGTAT[C/T]TCTGAACAACACCAAAATCGATAAA 52523808 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0.46 0.49 0.39 0.43 Homo sapiens C____938242_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/T | hCV938242 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AAAACCGATTACAATCCATACCACC[A/T]ACGTCAAAGTTGACATGATGATGAT 52523856 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938241_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 G/T | hCV938241 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ACAATCCATACCACCAACGTCAAAG[G/T]TGACATGATGATGATAAATGGGACA 52523866 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938240_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938240 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GATGATAAATGGGACAAAATATCCA[C/T]TAAACCGGTCAGCCAGCTGCTGAAT 52523901 NCBI Build 37.1 Human "13q14.3,13q14.3b" 13 0 0 0 0 Homo sapiens C__27861208_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV27861208 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GGGACAAAATATCCACTAAACCGGT[C/T]AGCCAGCTGCTGAATGGGTGCCTAT 52523911 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27861207_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV27861207 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ATATCCACTAAACCGGTCAGCCAGC[C/T]GCTGAATGGGTGCCTATGAAAATAA 52523919 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__32702233_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV32702233 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AGCCTCTTCCACCAGTTTCACAATC[C/T]GAGCCAAAGTGGTGTCATTGCCCAC 52524180 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938237_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/C | hCV938237 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AATCTGAGCCAAAGTGGTGTCATTG[A/C]CCACGTGGGTAGCTTTAATGAGCAC 52524201 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938236_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938236 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AGAGCCATGTGCATTTATAGACCCC[A/G]CAATTACAGTGCTTCCGGGTTTCTT 52524252 NCBI Build 37.1 Human "13q14.3,13q14.3b" 13 0 0 0 0 Homo sapiens C____938234_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938234 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CATGAAACAAGCCATCTCACCTGTG[A/G]TGAGGGACTCATCAGCCATGGTATT 52524413 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938233_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938233 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCCTTCCAGGACTTTCCCATCCACT[A/G]GAAACTTTCCCCCAGGGACCACCTT 52524464 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C___1919004_30 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | rs1061472 hCV1919004 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TGGAAACTTTCCCCCAGGGACCACC[C/T]TGACGATATCGCCCCGCTGCACCAG 52524488 NCBI Build 37.1 Human "13q14.3,13q14.3b" 13 0.48 0.48 0.37 0.43 Homo sapiens C__27861205_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV27861205 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AGCTGCTGTTACCTTTGCCAAGTGT[C/T]CCAGCCACCGGCCCAGGGCAATGAA 52532460 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__11893129_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV11893129 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GGGGGGCGTGTCGAAGAATGTCACA[A/G]GGCTCCTCTCCGCCTTCTCAGCCAC 52532523 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938223_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938223 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ACAGCAACCACCAGGATGACCAGAG[A/G]ATAAACATAAGCAATGCTTGTGGCC 52532572 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__29951213_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | hCV29951213 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CAGAGAATAAACATAAGCAATGCTT[C/G]TGGCCAGGACGATGAGCACGTCCAT 52532592 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27859522_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV27859522 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ATGTTGGCTGACCTGTGTCTCAGAG[A/G]TTTGTAGGCCTGAACGTAGAAGTAC 52532641 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27529321_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | hCV27529321 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GATAAAGAAGATGAGATTTAGAATG[C/G]ACAGTCCTGGAATGATGTTGTGGTC 52534327 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938214_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV938214 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AAGATGAGATTTAGAATGGACAGTC[C/T]TGGAATGATGTTGTGGTCCAGGACC 52534334 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938213_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T I665| rs72552259 hCV938213 Mis-sense Mutation|Intron "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GTATCAGCATATAGATCATTAAGGC[C/T]ATGACAGGGATGCCAAACACCAGGC 52534410 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__29915142_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 G/T | hCV29915142 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TGACAGGGATGCCAAACACCAGGCT[G/T]CACAGGAAAGACTTCTTCCACCTGG 52534437 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938212_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/C | hCV938212 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GTGTTCTACCTACTGCTTTATTTCC[A/C]TCTTGTGGTCCAAGTGATGAGCGTT 52535985 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938211_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G H642| rs72552285 hCV938211 Mis-sense Mutation|Intron "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TACTGCTTTATTTCCATCTTGTGGT[C/G]CAAGTGATGAGCGTTGGGGTTTCTC 52535995 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27861194_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | hCV27861194 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TCTCTGGGCCAGGGAAGCATGAAAG[C/G]CAATTTCCTTGTCATTAAAAAGAGA 52536042 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938205_30 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938205 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TCAAAACCCAGGTCCTGGATGAACT[A/G]AGCTATCTCGAGGGGCTGGATGACC 52542657 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__26157902_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV26157902 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 AGGGGCTGGATGACCTCTGGGTCAT[A/G]CTTGATCTCTGCCTTTCCTGCCATC 52542693 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__25607506_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G S499|S499 rs61733681 hCV25607506 Mis-sense Mutation|Mis-sense Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TTCTATGTTAGACACACAGGATGCA[C/G]AGGTCATGCCTTTGATCTGTAAGAA 52544675 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938204_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938204 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 TGCACAGGTCATGCCTTTGATCTGT[A/G]AGAAGCACTTCTGCGGTGCCACTGC 52544696 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27861192_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/G | hCV27861192 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GAATTCCCAGCACTGTGGTTTCCAA[C/G]AGGGTTAGTAGAACAGCTTTCTAGG 52544865 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C___8713998_80 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/C | rs1801243 hCV8713998 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CTGAGTTCTTCTGGGCTAATTACAG[A/C]GGGATTATAAAGAACTGTTGCAGTC 52548140 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0.48 0.19 0.49 0.47 Homo sapiens C__32702257_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 -/A | hCV32702257 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CGGCTCCATCAGGAAGAGAAACTTT[-/A]AAAATTCCCAGGTGGAAGTGCCTCG 52548387 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27529340_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/T | hCV27529340 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CCCTCTGCAGAGCCACTGGGCTGGT[A/T]CAAGAAGGGTCATACTTTACTTGGG 52548441 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938200_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938200 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCAGTTTTGTTCTCCAAGGACACTT[A/G]AATACTTTGAACCCCTAGGAGCTGG 52548491 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938199_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 G/T | hCV938199 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CAATATTTTCTTCAATATTCAAGAC[G/T]CAAGACTTACAATGCATTCCATCTA 52548543 NCBI Build 37.1 Human "13q14.3,13q14.3b" 13 0 0 0 0 Homo sapiens C__32702258_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 -/G | hCV32702258 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CAATGCATTCCATCTATTCTCAGTT[-/G]GGAGGGTGACCACATGGCTTCCTTG 52548578 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__25607505_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T L210F|L210F rs61733680 hCV25607505 Mis-sense Mutation|Mis-sense Mutation "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CTTAAGGGAGCCACTTTGCTCTTGA[C/T]GGCAGCTTCAAATCCCATGTCATTT 52548728 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938198_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938198 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ATGTCCCCAATTTGATGGCAAACCT[A/G]TTGCAGGCACACAACCGATGGCACA 52549025 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__27540398_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 G/T | hCV27540398 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 GCAAACCTGTTGCAGGCACACAACC[G/T]ATGGCACATATTTCACAGTGGCACT 52549042 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938196_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/G | hCV938196 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ACATATTTCACAGTGGCACTGCCTT[A/G]TTCCAGGGAAACCTTCATGCTGATG 52549073 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C____938195_20 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 A/C | hCV938195 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 CAGGGAAACCTTCATGCTGATGATG[A/C]CTTTCAAATTGGAAATCCTGTCCTC 52549102 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__32302222_10 ATP7B WD|PWD|WC1|WND|RP11-327P2.1 C/T | hCV32302222 | "ATPase, Cu++ transporting, beta polypeptide" NM_000053|NM_001005918 ATCCAGACCACCTTCATAGCCAACA[C/T]TGTCAAAAGCAAAACTCTTCTTCAT 52549234 NCBI Build 37.1 Human "13q14.3b,13q14.3" 13 0 0 0 0 Homo sapiens C__12027717_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/T rs2234952 hCV12027717 UTR 3 glutathione S-transferase alpha 2 NM_000846 GAAATCAATTTTAACTAAGTGGGTG[A/T]ATAGGAGTTGTATTATTTAATTAGC 52615226 NCBI Build 37.1 Human "6p12.2,6p12.2a" 6 0 0.04 0 0 Homo sapiens C__12027652_20 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 C/T rs2266632 hCV12027652 UTR 3 glutathione S-transferase alpha 2 NM_000846 CTTTAGAATACTGGTCTTGCATGTT[C/T]TTGACCTCTATGGCTGGTTTATTAA 52615353 NCBI Build 37.1 Human "6p12.2,6p12.2a" 6 0 0.04 0 0 Homo sapiens C__12027651_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 G/T A210 rs6577 hCV12027651 Mis-sense Mutation glutathione S-transferase alpha 2 NM_000846 CTTCCTTGATTCTTCTAAAGATTTC[G/T]CATCCATGGGAGGCTTCCTTGGGCT 52615415 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0.1 0.33 0.26 0.2 Homo sapiens C__26548396_10 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/C N196 rs1803682 hCV26548396 Mis-sense Mutation glutathione S-transferase alpha 2 NM_000846 TCCTTGGGCTGCCAGGCTGTAGAAA[A/C]TTCTTCACTGTGGGCAGGTTACTGA 52615456 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__26548409_10 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/C rs2234733 hCV26548409 Intron glutathione S-transferase alpha 2 NM_000846 CCCAAAACACTGAACAGCTTCACTT[A/C]CTTTTTCAAAGGCAGGGAAGTAGCG 52617650 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__25653022_10 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 G/T P125 rs60332313 hCV25653022 Mis-sense Mutation glutathione S-transferase alpha 2 NM_000846 GAAGTAGCGATTTTTTGTTTTCTCT[G/T]GGATCAAGGCAAGCTTGGCATCTTG 52617692 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0.02 0 0 Homo sapiens C__22275149_30 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 C/G T112 rs2180314 hCV22275149 Mis-sense Mutation glutathione S-transferase alpha 2 NM_000846 CTTGGCATCTTGTTCCTCAGGTTGA[C/G]TAAAGGGCAGAAGAAGGATCATTTC 52617731 NCBI Build 37.1 Human "6p12.2,6p12.2a" 6 0.4 0.27 0.34 0.31 Homo sapiens C__12027714_50 GSTA2 GST2|GTA2|GTH2|GSTA2-2|MGC10525 A/G rs2234951 hCV12027714 glutathione S-transferase alpha 2 NM_000846 TCTTGTTCCTCAGGTTGACTAAAGG[A/G]CAGAAGAAGGATCATTTCACCCAAA 52617738 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0.02 0.01 0.08 0.1 Homo sapiens C__33420481_20 GSTA1 GST2|GTH1|GSTA1-1|MGC131939|RP11-392A23.1 A/G S189 PharmGKB:PA29016 rs1131965 hCV33420481 Silent Mutation glutathione S-transferase alpha 1 NM_145740 GAAACTTCTTCACTGTGGGCAGGTT[A/G]CTGATTCTGGTTTTCAGGGCCTGTA 52656758 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__30633952_10 GSTA1 GST2|GTH1|GSTA1-1|MGC131939|RP11-392A23.1 A/G S173 PharmGKB:PA29016 rs1051874 hCV30633952 Silent Mutation glutathione S-transferase alpha 1 NM_145740 TCAGCAGAGGGAAGCTGGAGATAAG[A/G]CTGGAGTCAAGCTCCTCGACGTAGT 52657681 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__26548725_10 GSTA1 GST2|GTH1|GSTA1-1|MGC131939|RP11-392A23.1 A/G H159 PharmGKB:PA29016 rs1051850 hCV26548725 Silent Mutation glutathione S-transferase alpha 1 NM_145740 CGACGTAGTAGAGAAGTTCCACCAG[A/G]TGAATGTCAGCCCGGCTCAGCTTGT 52657723 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__33420496_20 GSTA1 GST2|GTH1|GSTA1-1|MGC131939|RP11-392A23.1 A/G H143 PharmGKB:PA29016 rs17417517 hCV33420496 Silent Mutation glutathione S-transferase alpha 1 NM_145740 TGTTGCCAACAAGGTAGTCTTGTCC[A/G]TGGCTCTTTAAGACCTGGAGAATGG 52657771 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__26548738_10 GSTA1 GST2|GTH1|GSTA1-1|MGC131939|RP11-392A23.1 G/T Q117 PharmGKB:PA29016 rs1051757 hCV26548738 Mis-sense Mutation glutathione S-transferase alpha 1 NM_145740 TTGATCAAGGCAAGCTTGGCATCTT[G/T]TTCCTCAGGTGGACATACGGGCAGA 52658988 NCBI Build 37.1 Human "6p12.2,6p12.2a" 6 0 0 0 0 Homo sapiens C__25765507_10 GSTA5 C/T I130T rs61734384 hCV25765507 Mis-sense Mutation glutathione S-transferase alpha 5 NM_153699 TTTTTCAAAGGCAGGGAAGTAGCGA[C/T]TTTTTATTTTCTCTTTGACCAAGGC 52698964 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__26549079_10 GSTA5 C/T rs4515385 hCV26549079 Intron glutathione S-transferase alpha 5 NM_153699 TATACCTTCTGTGTACATATCAATC[C/T]TGAAAGACAAAAACAACCAAACCAT 52699081 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__26549095_10 GSTA5 C/T I55 rs2397118 hCV26549095 Mis-sense Mutation glutathione S-transferase alpha 5 NM_153699 ATCCCGTCAATCTCAACCATTGGTA[C/T]TTGCTGGAACAGCAAACTCCCATCT 52701143 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0.02 0.17 0.08 0.1 Homo sapiens C__33421496_30 GSTA3 GTA3|GSTA3-3|MGC22232|RP1-214M20.2 -/G P134P rs72552760 hCV33421496 Frame Shift InDel glutathione S-transferase alpha 3 NM_000847 AGCTTCACCTACTTTTTCGAAGGCA[-/G]GGGAAATAGCGACTTTTTGTTTTCT 52764745 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__26549524_10 GSTA3 GTA3|GSTA3-3|MGC22232|RP1-214M20.2 G/T L71 rs1052661 hCV26549524 Mis-sense Mutation glutathione S-transferase alpha 3 NM_000847 TATTTGCTGGCAATGTAGTTGAGAA[G/T]GGCTCTGGTCTGTACCAACTTCATC 52767205 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0.1 0 0 Homo sapiens C__33421524_40 GSTA3 GTA3|GSTA3-3|MGC22232|RP1-214M20.2 A/C I63 rs17851798 hCV33421524 Mis-sense Mutation glutathione S-transferase alpha 3 NM_000847 GAATGGCTCTGGTCTGTACCAACTT[A/C]ATCCCATCAATCTCAACCATTGGTA 52767227 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0 0 Homo sapiens C__30552587_10 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 C/G | rs6022987 hCV30552587 UTR 3|UTR 3 "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 CATTAGAACCCACACACACATACAC[C/G]GACACACACACACAGACACACACAC 52770596 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0.3 0.19 0.13 0.11 Homo sapiens C__25762743_20 GSTA3 GTA3|GSTA3-3|MGC22232|RP1-214M20.2 A/G W13 rs59410661 hCV25762743 Mis-sense Mutation glutathione S-transferase alpha 3 NM_000847 CACCGGATGGGCTCCATTCTGCCCC[A/G]TCCATTGAAGTAGTGAAGCTTGGGC 52770596 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0.01 0 0 0 Homo sapiens C___3120981_20 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G | rs4809957 hCV3120981 UTR 3|UTR 3 "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 GCAAGACAGAACAGGCTCCCAGGCC[A/G]TTCTAAGCACCTGAAGATGGTGCTG 52771171 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0.19 0.38 0.34 0.34 Homo sapiens C__27466583_20 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 C/T | rs3171182 hCV27466583 UTR 3|UTR 3 "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 GGTGCTGACACAGGTGAAGTGTAAA[C/T]CAGCAGTGAACCCTGTAGAATGCCT 52771215 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0 0 0 0 Homo sapiens C__30084183_10 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G | rs6068811 hCV30084183 UTR 3|UTR 3 "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 ACCCTGTAGAATGCCTTGGATCCCA[A/G]CACTCAGTCCGCTTCCCTGAGTTGG 52771250 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0 0 0 0 Homo sapiens C___3120982_30 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G | rs2762934 hCV3120982 UTR 3|UTR 3 "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 TGCCTTGGATCCCAGCACTCAGTCC[A/G]CTTCCCTGAGTTGGATATGATGTTA 52771261 NCBI Build 37.1 Human "20q13.2,20q13.2c" 20 0.16 0.15 0.13 0.11 Homo sapiens C__30426526_10 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G S409|S409 rs6068812 hCV30426526 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 ACAAATTCTACTTACTCCTTTGGGT[A/G]AAGCATATTCACCCAGAACTGTTGC 52774635 NCBI Build 37.1 Human "20q13.2,20q13.2c" 20 0 0 0 0 Homo sapiens C__29831815_10 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 C/T | rs6022989 hCV29831815 Intron|Intron "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 TGTAAATGGTACACTCGGCGTAAGC[C/T]TGAAAAGATAAAATCAAAGATGTAA 52774704 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0 0 0 0 Homo sapiens C__25620114_30 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G T374|T374 rs6022990 hCV25620114 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 TTTCAGACAGGCTTTTAAATACGGC[A/G]TATTCCTCAAATCTTCTGCCCGTGG 52775532 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0 0.07 0 0 Homo sapiens C__25620091_20 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 C/T | rs6068816 hCV25620091 | "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 CTGGAGTGACCATCATCCTCCCAAA[C/T]GTGCTCATCATCTGAGAGAAATGCA 52781091 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0.15 0.06 0.4 0.37 Homo sapiens C___1915656_30 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 A/G A184|A184 rs2296241 hCV1915656 Silent Mutation|Silent Mutation "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 GCTCATCTATTCTGCCCATAAAATC[A/G]GCCAAGACCTTCAAAGAAAACAACC 52786219 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0.46 0.47 0.44 0.44 Homo sapiens C__33659596_10 CYP24A1 CP24|CYP24|MGC126273|MGC126274|P450-CC24 -/G | hCV33659596 | "cytochrome P450, family 24, subfamily A, polypeptide 1" NM_000782|NM_001128915 TTGGTCCGCAAGGCTGACCTCTAGG[-/G]TCTGGCTGGAGCCACGGGGAGGTGT 52790445 NCBI Build 37.1 Human "20q13.2c,20q13.2" 20 0 0 0 0 Homo sapiens C___8649636_30 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 C/T rs405729 hCV8649636 UTR 3 glutathione S-transferase alpha 4 NM_001512 CTCATAAATTCTTTATTTTGGCTAA[C/T]ACTGATTGCATTCATTACTACCATT 52842781 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0.43 0.44 0.2 0.28 Homo sapiens C___1205144_40 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 G/T rs367836 hCV1205144 UTR 3 glutathione S-transferase alpha 4 NM_001512 TGATATTTCTAGAAGAGATGATCTC[G/T]TTGACACAAAAGACCCAACTTAGGA 52843131 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0.37 0.47 0.2 0.28 Homo sapiens C__30633958_10 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 C/T A163 rs4147617 hCV30633958 Mis-sense Mutation glutathione S-transferase alpha 4 NM_001512 ATTTTCTCTTCTAGAGCTAAAATGG[C/T]TTGGAGTAAAATCACATCTGCAAGG 52847431 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0 0 0.02 0 Homo sapiens C___8910325_20 GSTA4 GTA4|GSTA4-4|DKFZp686D21185|RP1-214M20.1 C/T Q117 rs1802061 hCV8910325 Silent Mutation glutathione S-transferase alpha 4 NM_001512 GGGCCATGTTAACCACTTCCTTTTG[C/T]TGATCATCTGGTTTTAAGAAAGGAT 52849325 NCBI Build 37.1 Human "6p12.2a,6p12.2" 6 0.07 0 0 0 Homo sapiens C__31146276_10 GPX7 GPX6|CL683|GPx-7|NPGPx|GSHPx-7|FLJ14777|UNQ469/PRO828 G/T A4 rs11205977 hCV31146276 Silent Mutation glutathione peroxidase 7 NM_015696 CTCCGGAACAAGCCATGGTGGCGGC[G/T]ACGGTGGCAGCGGCGTGGCTGCTCC 53068093 NCBI Build 37.1 Human "1p32.3c,1p32.3" 1 0.12 0.08 0 0 Homo sapiens C__11730536_1_ GPX7 GPX6|CL683|GPx-7|NPGPx|GSHPx-7|FLJ14777|UNQ469/PRO828 C/T F79 rs1970951 hCV11730536 Silent Mutation glutathione peroxidase 7 NM_015696 AGCGAGACCTGGGCCCCCACCACTT[C/T]AACGTGCTCGCCTTCCCCTGCAACC 53072454 NCBI Build 37.1 Human "1p32.3c,1p32.3" 1 0.16 0.07 0.22 0.18 Homo sapiens C__34030229_20 CES1 CEH|TGH|ACAT|CES2|HMSE|SES1|HMSE1|PCE-1|MGC117365 A/G || PharmGKB:PA107 hCV34030229 || carboxylesterase 1 NM_001025194|NM_001025195|NM_001266 TCTCAGAAATGGCCCGGTGGAAGAG[A/G]TTCTTGGCCAATGGAGACAAAACCT 55854368 NCBI Build 37.1 Human "16q12.2c,16q12.2" 16 0.01 0 0 0 Homo sapiens C___3188393_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T rs8176351 hCV3188393 UTR 3 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 CTCTCAAAGAGCTTACATGCAAAGA[C/T]GAAGGACCAACCAGGTACAGACCAG 58156510 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0.03 0 0 Homo sapiens C__30204419_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T rs8176350 hCV30204419 UTR 3 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 GATAGGCATTAGGGGAAGATGTATA[C/T]CTTGGTCTTGTGCCTACAAAAAATC 58156848 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0.01 Homo sapiens C__27537009_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G hCV27537009 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 AAACTGTAGGTTGATGCTCCTTTCA[C/G]GTACCAGGACAGTCCGGGTCTTGGG 58156962 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27859814_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/C hCV27859814 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 TGGGGCCGCACCTGGCTCAGGCTGC[A/C]CCTCAAAATGTGTTAGGATCTGGAA 58157019 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27529373_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/G hCV27529373 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 GCCAGGCGTCTCCCCATACAGCTGC[A/G]CTTGCCAAAGCCAAAGGGAAGAGAT 58157450 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27531810_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G hCV27531810 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 ACCCTCCCCCAGCCAGCGAGCTGGA[C/G]GAAAAGAATTTGGCTCTGGGAACTG 58157521 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__30952587_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T N356 rs13377933 hCV30952587 Mis-sense Mutation "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 CAGAACAGTGGCTGAGGGGTAGGCA[C/T]TGGAGCCAGGGCTCAGGGCAGCTGT 58158230 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27859813_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/G hCV27859813 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 AGGGCAGCTGTGATCTCTGAGTGGA[A/G]TGCTGTCTGGACTTCGGGGTGCCGG 58158270 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27537008_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G P335 rs28934606 hCV27537008 Mis-sense Mutation "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 GAGTGCTGTCTGGACTTCGGGGTGC[C/G]GGGAGAGCTCATACAGAGCCCAAGA 58158293 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27859812_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha G/T hCV27859812 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 ATACAGAGCCCAAGAGAGCGTGTTG[G/T]ACACCTGAAAAACATGTGAAAGCAA 58158329 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27861805_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G hCV27861805 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 CACAGCACGGAGGGAGAACCTCACC[C/G]TGTCCACTCCCGCCAATAGCAACTC 58158538 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__25623457_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T rs8176345 hCV25623457 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 TCACCGTGTCCACTCCCGCCAATAG[C/T]AACTCTGTCACATTTCCCAGGATGG 58158558 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0.03 0 0 0 Homo sapiens C__32857863_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha -/C hCV32857863 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 TTACCAAATGCAAACATCTGGTCCC[-/C]AGTCTCGGCAGAGGCGGCCCCAGGG 58158815 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__25623458_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T V230V rs61734540 hCV25623458 Silent Mutation "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 GCATCGCCATGGTCAACAGCGTGGA[C/T]ACAAACACCGAGCCCACAGCGCGGA 58158894 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__29627155_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/G L166 rs8176344 hCV29627155 Mis-sense Mutation "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 CCCCGCTGGCGCCTCAGACGCCGCA[C/G]AAGGTCGCAGACTACGTTGTTCAGG 58159173 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0.02 Homo sapiens C__27541604_20 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T hCV27541604 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 TGGCGCCTCAGACGCCGCACAAGGT[C/T]GCAGACTACGTTGTTCAGGGTTCCG 58159179 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__29043173_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/G R153 rs7965963 hCV29043173 Silent Mutation "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 CTACGTTGTTCAGGGTTCCGGCGTA[A/G]CGGGCGGCCGCTTGAGGCCGGAGGA 58159210 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__27537317_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/G hCV27537317 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 GGCCGCTTGAGGCCGGAGGAGGAGC[A/G]GGGCCAGGAGACTGCGGAGCCTTTG 58159241 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__29454090_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha A/C hCV29454090 "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 GGAGCCTTTGCCATTCTTCGCCTTC[A/C]CTGCAGGGTTGAGGAGAGAGTGCGC 58159282 NCBI Build 37.1 Human "12q14.1,12q14.1a" 12 0 0 0 0 Homo sapiens C__25623459_30 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T T129 rs58915677 hCV25623459 Mis-sense Mutation "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 CTTCTGGGGGCAGAGAAGACTCACG[C/T]AGTGAGCAGTCCGCAAGCCCGCTGG 58159791 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0.01 0 Homo sapiens C__27861804_10 CYP27B1 VDR|CP2B|CYP1|PDDR|VDD1|VDDR|VDDRI|CYP27B|P450c1|CYP1alpha C/T E125 rs28934605 hCV27861804 Mis-sense Mutation "cytochrome P450, family 27, subfamily B, polypeptide 1" NM_000785 AGAGAAGACTCACGCAGTGAGCAGT[C/T]CGCAAGCCCGCTGGCGGCAGCGGCG 58159802 NCBI Build 37.1 Human "12q14.1a,12q14.1" 12 0 0 0 0 Homo sapiens C__25762052_20 ALDH1A2 RALDH2|MGC26444|RALDH2-T|RALDH(II) G/T I418|I380|I322 rs35251510 hCV25762052 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 1 family, member A2" NM_003888|NM_170696|NM_170697 TCAAAATTTCCTGAACAGGGCCAAA[G/T]ATCTGCAAAAAGATAATATGACTCA 58253490 NCBI Build 37.1 Human "15q21.3d,15q21.3" 15 0 0.01 0.05 0 Homo sapiens C__27944221_20 ALDH1A2 RALDH2|MGC26444|RALDH2-T|RALDH(II) G/T P216|P216|P120 rs4474631 hCV27944221 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 1 family, member A2" NM_003888|NM_170696|NM_170697 GGGCTCCCATGTAGAGTGCACTGAG[G/T]GGTGTTTGCTCTGCTGGCTTAATAA 58285179 NCBI Build 37.1 Human "15q21.3,15q21.3d" 15 0 0 0 0 Homo sapiens C__32665199_10 ALDH1A2 RALDH2|MGC26444|RALDH2-T|RALDH(II) C/T A151|A151|A55 rs16939660 hCV32665199 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 1 family, member A2" NM_003888|NM_170696|NM_170697 TCCCATGAATTTTATCAGCCCAGCC[C/T]GCGTAATATCGAAAGGTTTTGATGA 58302887 NCBI Build 37.1 Human "15q21.3d,15q21.3" 15 0.03 0.03 0 0 Homo sapiens C__30609543_10 CYP7A1 CP7A|CYP7|CYPVII|MGC126826|MGC138389 C/T rs8192879 hCV30609543 UTR 3 "cytochrome P450, family 7, subfamily A, polypeptide 1" NM_000780 CCAATTAGAATACATATCTTTTCTT[C/T]GGAGACGGGATCTCACTAAGCTGTC 59403576 NCBI Build 37.1 Human "8q12.1c,8q12.1" 8 0.45 0.33 0.24 0.43 Homo sapiens C__29942953_10 CYP7A1 CP7A|CYP7|CYPVII|MGC126826|MGC138389 C/T N347 rs8192875 hCV29942953 Mis-sense Mutation "cytochrome P450, family 7, subfamily A, polypeptide 1" NM_000780 AACTCAACATAACAAGTATACCCAC[C/T]TAATACTGGCAGGTCATTCAGTTCT 59407065 NCBI Build 37.1 Human "8q12.1c,8q12.1" 8 0 0 0.05 0 Homo sapiens C__25625994_10 CYP7A1 CP7A|CYP7|CYPVII|MGC126826|MGC138389 G/T N86 rs62621283 hCV25625994 Mis-sense Mutation "cytochrome P450, family 7, subfamily A, polypeptide 1" NM_000780 TATTTTCCGTGGCACAACACCTTAT[G/T]GTATGACAAGGGATTTGTGATGAAA 59410853 NCBI Build 37.1 Human "8q12.1c,8q12.1" 8 0 0 0 0 Homo sapiens C__25625995_20 CYP7A1 CP7A|CYP7|CYPVII|MGC126826|MGC138389 A/G rs60059260 hCV25625995 "cytochrome P450, family 7, subfamily A, polypeptide 1" NM_000780 ACAAGGGATTTGTGATGAAATGGAC[A/G]TATTTTCCCATTAGTTTGCAGGTAA 59410884 NCBI Build 37.1 Human "8q12.1c,8q12.1" 8 0 0.06 0 0 Homo sapiens C__16170603_20 CYP2J2 CPJ2 A/T V499 rs2228114 hCV16170603 Silent Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 TTTCTTAACAATATTACACCTGAGG[A/T]ACAGCGCAGAGGCGGTGACTGACTG 60359335 NCBI Build 37.1 Human "1p32.1,1p32.1c" 1 0 0.01 0 0 Homo sapiens C__27859821_10 CYP2J2 CPJ2 "CYP2J2*6,c.1210A>T|CYP2J2*6,g.25662A>T" A/T Y404 rs72547598 hCV27859821 Mis-sense Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 GGGTCCCTGTGCAGCGCCGTCAAAT[A/T]GGTCAGGATCATGGTACCCTAGAGA 60366757 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__32558900_10 CYP2J2 CPJ2 -/G V380V rs72547599 hCV32558900 Frame Shift InDel "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 TGGTATCAACTGTCACTTCCCTGGG[-/G]AACGTTCAGGGGGATGATGTTGCCC 60370594 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C___9587379_20 CYP2J2 CPJ2 A/T Q378 rs1056596 hCV9587379 Mis-sense Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 AACTGTCACTTCCCTGGGAACGTTC[A/T]GGGGGATGATGTTGCCCATTCTCTG 60370601 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__30634200_10 CYP2J2 CPJ2 "CYP2J2*5,c.1024G>A|CYP2J2*5,g.21709G>A" C/T N342 rs56053398 hCV30634200 Mis-sense Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 TGCTGCCCCTGGCCAATCACTCTGT[C/T]AATCTCAGCTTGTACTTTTTCTGGT 60370710 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__16172139_20 CYP2J2 CPJ2 G/T R321 rs2229191 hCV16172139 Silent Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 AGGGCCATATAAAGCAGAGCCCATC[G/T]CAGAGTTGTGGAAGTTGTCTCGGTT 60373500 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0.03 0 0.04 0.02 Homo sapiens C__27859820_10 CYP2J2 CPJ2 "CYP2J2*4,c.575T>A|CYP2J2*4,g.15029T>A" A/T N192 rs66515830 hCV27859820 Mis-sense Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 GCGTTCTCCGAAGGTGATGGAGCAA[A/T]TGATATTGGAAACTGCATTGTTGAT 60377389 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__32558987_10 CYP2J2 CPJ2 -/A L181H rs72547600 hCV32558987 Frame Shift InDel "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 GGAAACTGCATTGTTGATCTTGAAA[-/A]TGAGGGTCAAAAGGCTGTCCTGAAG 60377422 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__27859819_10 CYP2J2 CPJ2 "CYP2J2*3,c.472C>T|CYP2J2*3,g.14533C>T" A/G C158 rs56307989 hCV27859819 Mis-sense Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 AGGTGTTGGGCCTCCTCCTGAATGC[A/G]TTCCTCTAAGCTCTTCTTTCCTAAA 60377885 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__27859818_20 CYP2J2 CPJ2 "CYP2J2*2,c.427A>G|CYP2J2*2,g.14488A>G" C/T A143 rs55753213 hCV27859818 Mis-sense Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 CCTAAACCAAAGTTCCTTAGTGCTG[C/T]CAGAGTGAACCTTCTTTGCTCCTTC 60377930 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__16170604_20 CYP2J2 CPJ2 "CYP2J2,c.371A>G|CYP2J2,g.10807A>G" C/T S124 rs2228113 hCV16170604 Mis-sense Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 CTTTCGTTGGCCAAGAAACTTACCA[C/T]TTTTCTTAAAGATATGTTCTCGCAT 60381612 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0.01 0.02 0 0 Homo sapiens C___9587401_20 CYP2J2 CPJ2 C/G R111 rs1056595 hCV9587401 Silent Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 TATGTTCTCGCATAGGGGTCACGGG[C/G]CGGTTCCCAAAGTTTTGGTCCATGT 60381650 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0 0 0 Homo sapiens C__16172140_20 CYP2J2 CPJ2 A/G rs2229190 hCV16172140 "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 GGCGGTTCCCAAAGTTTTGGTCCAT[A/G]TGGATAAGGGCTTCTTTGATTAAGG 60381674 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0.08 0 0 Homo sapiens C__31875793_10 CYP2J2 CPJ2 A/G F61 rs11572193 hCV31875793 Silent Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 GCTGAACCTCCAGGTGCGACTGCTC[A/G]AAGTCCACAAGGAAGAAGTTGCCAA 60392236 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0.01 0.06 0.07 Homo sapiens C__31875792_10 CYP2J2 CPJ2 A/G F52 rs11572192 hCV31875792 Silent Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 AGTCCACAAGGAAGAAGTTGCCAAG[A/G]AAGGGCAGGCGCCAGGGCCCCGGCG 60392263 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0 0.01 0 0 Homo sapiens C___1917952_20 CYP2J2 CPJ2 A/G L50 rs11572191 hCV1917952 Silent Mutation "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 AGGAAGAAGTTGCCAAGGAAGGGCA[A/G]GCGCCAGGGCCCCGGCGGGTAGTTC 60392271 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0.14 0.01 0 0 Homo sapiens C___9581699_80 CYP2J2 CPJ2 "CYP2J2*7,g.-76G>T" A/C rs890293 hCV9581699 "cytochrome P450, family 2, subfamily J, polypeptide 2" NM_000775 GCAGGCGACGGTCCCCGCCCCGCCT[A/C]GCTCCCAGCCGTGCCCCGCCTCCCA 60392494 NCBI Build 37.1 Human "1p32.1c,1p32.1" 1 0.06 0.12 0.08 0.07 Homo sapiens C__25598615_20 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 A/G Y490|Y490|| PharmGKB:PA388 rs11568635 hCV25598615 Silent Mutation|Silent Mutation|Intron|Intron "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 CGCTGGCGGCCACAGGAACAGCACC[A/G]TAGATGAAGAGAGGCATGGAGGGGT 62744751 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__31053787_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 C/T Q454|Q454|H454|H454 PharmGKB:PA388 rs11568634 hCV31053787 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 ATTCTCCCATTAGGCTCCCACTCAC[C/T]GGATCATTGTGGGATACAGTTCCCC 62746960 NCBI Build 37.1 Human "11q12.3,11q12.3b" 11 0 0 0 0 Homo sapiens C__31053790_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 A/G L411|L411|L411|L411 PharmGKB:PA388 rs11568619 hCV31053790 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 GCTCACCCTGGGGTATCACCCCATT[A/G]AGCAGGATGCAGATGCCTGCCAGCA 62747225 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__31053817_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 A/G W293|W293|W293|W293 PharmGKB:PA388 rs45607933 hCV31053817 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 CCTTCTTCCCGCTTCCCATTGATCC[A/G]GGCGACTCTCTGCAGGGCCCTCAGG 62748776 NCBI Build 37.1 Human "11q12.3,11q12.3b" 11 0 0 0 0 Homo sapiens C___9575316_30 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 G/T T284|T284|T284|T284 PharmGKB:PA388 rs1062973 hCV9575316 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 GGGCGACTCTCTGCAGGGCCCTCAG[G/T]GTGAGGTCCAGCCTCCCGGAGGAGG 62748801 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__31053829_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 A/G T226|T226|T226|T226 PharmGKB:PA388 rs11568623 hCV31053829 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 CTGGCCCAGGCTGTAGACATAGCCA[A/G]TCAAGGTGCCCACGCAGGCCCGTGT 62749434 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__25598604_20 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 C/T P117|P117|P117|P117 PharmGKB:PA388 rs11568629 hCV25598604 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 TGCTCACCTCAGTCACGATGGTAGA[C/T]GGGAAGGTGCTGTTGTCATAGATCC 62751812 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0.05 0.01 0.01 0 Homo sapiens C__25598603_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 A/G L104|L104|L104|L104 PharmGKB:PA388 rs11568627 hCV25598603 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 GTCATAGATCCAGCCATCGGTGCAG[A/G]GCTCTGTGGCCCCTGTGCCATTGGC 62751852 NCBI Build 37.1 Human "11q12.3,11q12.3b" 11 0.01 0 0 0 Homo sapiens C__31053856_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 A/C ||| PharmGKB:PA388 rs11568628 hCV31053856 ||| "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 CATTGAGAAAGGGCAGTCCCCACTG[A/C]GGGGAGGTGAAGCGGAGGCAGGACT 62751911 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0.06 0.01 0.01 0 Homo sapiens C__31053858_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 A/G ||| PharmGKB:PA388 rs11568630 hCV31053858 ||| "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 GGGGCAGCCAGACCTCCAGCCCCCC[A/G]TTCTTGCTGAGGTTGGCATCGGCAG 62751983 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0.03 0.01 Homo sapiens C__33001840_10 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 -/G ||| PharmGKB:PA388 rs67264610 hCV33001840 Frame Shift InDel|Frame Shift InDel|Frame Shift InDel|Frame Shift InDel "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 ACCTCCAGCCCCCCGTTCTTGCTGA[-/G]GTTGGCATCGGCAGGCGGGCGGCAG 62751994 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__25598602_40 SLC22A6 OAT1|PAHT|HOAT1|ROAT1|FLJ55736|MGC45260 C/T ||| PharmGKB:PA388 rs11568626 hCV25598602 ||| "solute carrier family 22 (organic anion transporter), member 6" NM_004790|NM_153276|NM_153277|NM_153278 GCTGAGGTTGGCATCGGCAGGCGGG[C/T]GGCAGTGGTGGGTAGGGATGGCAGC 62752014 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0.03 0 0 Homo sapiens C__31053942_10 SLC22A8 OAT3|MGC24086 G/T ||| PharmGKB:PA389 rs11568487 hCV31053942 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 GGCCTGGTCCGTGAGGCTGTAGAGG[G/T]ATCCTCTGGGAGGCCTTTTCCACCT 62760748 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__31053945_10 SLC22A8 OAT3|MGC24086 C/T ||| PharmGKB:PA389 rs11568486 hCV31053945 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 CCCACGCGGGTCCACAGGTTACTTA[C/T]GCCCATACCTGTTTGCCTGCGAGGG 62761083 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__31053951_10 SLC22A8 OAT3|MGC24086 A/C ||| PharmGKB:PA389 rs11568497 hCV31053951 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 TCACCCAAGGGCACAAAGGTGAGAG[A/C]CAAGATGGCCCCTCCTGCCAGGAGC 62762035 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__25956323_20 SLC22A8 OAT3|MGC24086 C/T ||| PharmGKB:PA389 rs57743826 hCV25956323 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 TGCGGCGCAGCATGGGTATCCGGAA[C/T]AGGTCACTTGCGGTGTACTTGGCCT 62763226 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0.02 0 0 0 Homo sapiens C__31053960_10 SLC22A8 OAT3|MGC24086 A/G ||| PharmGKB:PA389 rs11568492 hCV31053960 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 TTGCCATTGAAGACAGCCACCCGCC[A/G]GAGTATCTTCAGGGCCTTCGAGGAC 62763557 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__31053961_10 SLC22A8 OAT3|MGC24086 A/C ||| PharmGKB:PA389 rs11568493 hCV31053961 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 CTTTCCAGACAAGACCAACCAGCGT[A/C]TGGACTCTGGTGTCCACCTGGGGGC 62763607 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__15881290_30 SLC22A8 OAT3|MGC24086 A/T ||| PharmGKB:PA389 rs2276299 hCV15881290 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 AGAAGACGAAGAAGGGAATGGACAC[A/T]GTTAACTGCAGCCAACGCCACTGGG 62766431 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0.11 0.04 0.23 0.28 Homo sapiens C__31054013_10 SLC22A8 OAT3|MGC24086 G/T ||| PharmGKB:PA389 rs11568479 hCV31054013 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 GCCCTCCAATCAGTATACCTGCCAT[G/T]AAGATAGACTGGGCCATCTCCTTCA 62768242 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__30633900_10 SLC22A8 OAT3|MGC24086 C/T ||| PharmGKB:PA389 rs4149180 hCV30633900 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 AAGGCCCTGTGGAGGCATTGTGGGG[C/T]GGGCGACAGTGGTGGACAGGGGTGG 62782278 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0.01 0.47 0.12 0.01 Homo sapiens C__31054156_10 SLC22A8 OAT3|MGC24086 C/T ||| PharmGKB:PA389 rs11568494 hCV31054156 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 GGCCCAGTATGGCTACATGCAGGAA[C/T]TGGAAATGGCCCATGCTTCCCACAC 62782380 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0 0 0 0 Homo sapiens C__31054157_10 SLC22A8 OAT3|MGC24086 C/T ||| PharmGKB:PA389 rs4149179 hCV31054157 ||| "solute carrier family 22 (organic anion transporter), member 8" NM_001184732|NM_001184733|NM_001184736|NM_004254 AGAAGGTCATGGCACTGGGGCAAGA[C/T]GAGCCAGAGCTGTGGGCAGGGCATA 62782446 NCBI Build 37.1 Human "11q12.3b,11q12.3" 11 0.01 0.03 0.26 0.31 Homo sapiens C__29617942_10 CYP7B1 CP7B|CBAS3|SPG5A A/G rs8192907 hCV29617942 UTR 3 "cytochrome P450, family 7, subfamily B, polypeptide 1" NM_004820 ATTAAAAAGAAATAGATGAGCTTAG[A/G]ATGTTTAGGGTAATTTTGATAGATT 65509150 NCBI Build 37.1 Human "8q12.3c,8q12.3" 8 0 0 0.02 0.01 Homo sapiens C__27537107_20 CYP7B1 CP7B|CBAS3|SPG5A A/G X388 rs72554620 hCV27537107 Nonsense Mutation "cytochrome P450, family 7, subfamily B, polypeptide 1" NM_004820 AAGATGGCTACCAAGTCTCCCTTTC[A/G]CACACAGTAGTCCCCGGTCTCTGAA 65517310 NCBI Build 37.1 Human "8q12.3c,8q12.3" 8 0 0 0 0 Homo sapiens C__29454152_10 CYP7B1 CP7B|CBAS3|SPG5A A/G S363 rs72554621 hCV29454152 Silent Mutation "cytochrome P450, family 7, subfamily B, polypeptide 1" NM_004820 CAAAACGAATGGTGGTTGAATATGA[A/G]GACAGTCGTAAAGCTTCAAAAATGC 65517383 NCBI Build 37.1 Human "8q12.3c,8q12.3" 8 0 0 0 0 Homo sapiens C__25591733_10 CYP7B1 CP7B|CBAS3|SPG5A C/T H324 rs59035258 hCV25591733 Mis-sense Mutation "cytochrome P450, family 7, subfamily B, polypeptide 1" NM_004820 CTTTTGACCTGTTGACTGCAGCAAA[C/T]GGTCAATTTCGTCACGCACTGCTGC 65527669 NCBI Build 37.1 Human "8q12.3,8q12.3c" 8 0.04 0 0 0 Homo sapiens C__29454153_10 CYP7B1 CP7B|CBAS3|SPG5A A/G F240 rs72554622 hCV29454153 Mis-sense Mutation "cytochrome P450, family 7, subfamily B, polypeptide 1" NM_004820 GCATTTTATAATTTTCTCTCTAATA[A/G]ACTTGACATTTCCTAGAAGCTCAAT 65528379 NCBI Build 37.1 Human "8q12.3c,8q12.3" 8 0 0 0 0 Homo sapiens C__29454154_10 CYP7B1 CP7B|CBAS3|SPG5A A/T X222 rs72554623 hCV29454154 Nonsense Mutation "cytochrome P450, family 7, subfamily B, polypeptide 1" NM_004820 ATGTTGGATACTAAATATGCAAACT[A/T]GTCATCAAATTTTAAAAAATCATCT 65528434 NCBI Build 37.1 Human "8q12.3c,8q12.3" 8 0 0 0 0 Homo sapiens C__30633943_10 SLC29A2 ENT2|DER12|HNP36 C/T V411 PharmGKB:PA191 rs8187659 hCV30633943 Silent Mutation "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 TGGGCGCCAGGCACATGGTGAGGGA[C/T]ACCAGGTAGCCATTAGAAACGGCAA 66131722 NCBI Build 37.1 Human "11q13.2a,11q13.2" 11 0 0 0 0 Homo sapiens C__25594249_20 SLC29A2 ENT2|DER12|HNP36 A/G P309 PharmGKB:PA191 rs8187661 hCV25594249 Silent Mutation "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 AGCTGGTCACCATGGCTGTGATGGC[A/G]GGGAAGACGGACAGGGTGACTGTGA 66133643 NCBI Build 37.1 Human "11q13.2,11q13.2a" 11 0 0.05 0 0 Homo sapiens C__30633944_10 SLC29A2 ENT2|DER12|HNP36 C/T E265 PharmGKB:PA191 rs8187657 hCV30633944 Silent Mutation "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 CATCTGGCTCTGATTCCGGCTCCTT[C/T]TCCAGGTCAAGATCCAGGGTCAGAG 66133974 NCBI Build 37.1 Human "11q13.2,11q13.2a" 11 0 0 0 0 Homo sapiens C__25594238_20 SLC29A2 ENT2|DER12|HNP36 A/G G168G PharmGKB:PA191 rs61735089 hCV25594238 Silent Mutation "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 CAAGGGCAGCAAAGATCCCAGCCAG[A/G]CCCTGGCCGCTGAGGAAGAGGGTGC 66136054 NCBI Build 37.1 Human "11q13.2a,11q13.2" 11 0 0 0 0 Homo sapiens C__30633945_10 SLC29A2 ENT2|DER12|HNP36 C/T PharmGKB:PA191 rs8187647 hCV30633945 "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 CCAGCAGGCTGCCCAGAATGCGCAC[C/T]GTCTCCGGGACGCTGCTCAGAAGCA 66136658 NCBI Build 37.1 Human "11q13.2a,11q13.2" 11 0 0.02 0 0 Homo sapiens C__30633947_10 SLC29A2 ENT2|DER12|HNP36 G/T K68 PharmGKB:PA191 rs8187644 hCV30633947 Mis-sense Mutation "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 GCTGGGACAGCAGCGTCACCCAATT[G/T]TTGAAGTTGAAGGCATCCTCGGGAC 66136911 NCBI Build 37.1 Human "11q13.2a,11q13.2" 11 0 0 0 0 Homo sapiens C__30633949_10 SLC29A2 ENT2|DER12|HNP36 G/C G47 PharmGKB:PA191 rs8187646 hCV30633949 Silent Mutation "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 TGCTCAGGATCCTGGCTGTGCTGTT[G/C]CCGGCCCCGGCCAGTCGCGCCTGGA 66136974 NCBI Build 37.1 Human "11q13.2a,11q13.2" 11 0 0.01 0 0 Homo sapiens C__26528434_30 SLC29A2 ENT2|DER12|HNP36 A/C PharmGKB:PA191 rs4554890 hCV26528434 UTR 5 "solute carrier family 29 (nucleoside transporters), member 2" NM_001532 GCCATGGCCGCCGCGGCGGATGCGC[A/C]TGGGGTGAAAGGGGCAGAGAAGCCG 66139083 NCBI Build 37.1 Human "11q13.2a,11q13.2" 11 0 0 0 0 Homo sapiens C__27837058_20 CES2 iCE|CE-2|PCE-2|CES2A1 C/T | PharmGKB:PA377 rs67575372 hCV27837058 | carboxylesterase 2 NM_003869|NM_198061 GGAAGTCAGGCTGGCCGGGAGCTCC[C/T]GTATCCAGGACGGTTGGTCGCCTCT 66968627 NCBI Build 37.1 Human "16q22.1a,16q22.1" 16 0 0 0 0 Homo sapiens C__25613901_10 CES2 iCE|CE-2|PCE-2|CES2A1 A/G | PharmGKB:PA377 rs72547530 hCV25613901 | carboxylesterase 2 NM_003869|NM_198061 CAAGGCACTGATCCACTGCTGGACA[A/G]ACCCGGGGCAGCCTCTGGGTGAACA 66969470 NCBI Build 37.1 Human "16q22.1a,16q22.1" 16 0 0 0 0 Homo sapiens C__31760491_10 CES2 iCE|CE-2|PCE-2|CES2A1 A/G | PharmGKB:PA377 rs11568312 hCV31760491 | carboxylesterase 2 NM_003869|NM_198061 TTCCTTGTATGATGGTTCCATGCTG[A/G]CTGCCTTGGAGAACGTGGTGGTGGT 66974194 NCBI Build 37.1 Human "16q22.1a,16q22.1" 16 0 0 0 0 Homo sapiens C__30123087_10 CES2 iCE|CE-2|PCE-2|CES2A1 A/G | PharmGKB:PA377 rs8192924 hCV30123087 | carboxylesterase 2 NM_003869|NM_198061 TACCTGGACCAAGTGGCTGCACTAC[A/G]CTGGGTCCAGCAGAATATCGCCCAC 66974399 NCBI Build 37.1 Human "16q22.1a,16q22.1" 16 0 0 0 0 Homo sapiens C__31760492_10 CES2 iCE|CE-2|PCE-2|CES2A1 A/G | PharmGKB:PA377 rs10852434 hCV31760492 | carboxylesterase 2 NM_003869|NM_198061 CCCCATATCCCAAGGACTCTTCCAC[A/G]GAGCCATCATGGAGAGTGGCGTGGC 66974527 NCBI Build 37.1 Human "16q22.1a,16q22.1" 16 0 0 0 0 Homo sapiens C__25613900_30 CES2 iCE|CE-2|PCE-2|CES2A1 C/T | PharmGKB:PA377 rs61735428 hCV25613900 | carboxylesterase 2 NM_003869|NM_198061 ACCCCCAGGAGCTGCTGGCCTCTGC[C/T]GACTTTCAGCCTGTCCCTAGCATTG 66975483 NCBI Build 37.1 Human "16q22.1a,16q22.1" 16 0 0 0 0 Homo sapiens C__25596309_10 GSTP1 PI|DFN7|GST3|GSTP|FAEES3 C/T Y50 PharmGKB:PA29028 rs8191448 hCV25596309 Silent Mutation glutathione S-transferase pi 1 NM_000852 AGCCATGCCTCCCCCAACAGCTATA[C/T]GGGCAGCTCCCCAAGTTCCAGGACG 67352161 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0.13 0 0 Homo sapiens C__11390508_20 GSTP1 PI|DFN7|GST3|GSTP|FAEES3 A/G PharmGKB:PA29028 rs72559739 hCV11390508 Intron glutathione S-transferase pi 1 NM_000852 CTGCGTCACCTGGGCCGCACCCTTG[A/G]TGAGTCTTGAACCTCCAAGTCCAGG 67352244 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0 0 0 Homo sapiens C__32336743_10 GSTP1 PI|DFN7|GST3|GSTP|FAEES3 A/G E78 PharmGKB:PA29028 rs1804666 hCV32336743 Mis-sense Mutation glutathione S-transferase pi 1 NM_000852 CCTGCTCCCCTCCACCCAACCCCAG[A/G]GCTCTATGGGAAGGACCAGCAGGAG 67352609 NCBI Build 37.1 Human "11q13.2,11q13.2b" 11 0 0 0 0 Homo sapiens C___3237198_20 GSTP1 PI|DFN7|GST3|GSTP|FAEES3 A/G V105 PharmGKB:PA29028 rs1695 hCV3237198 Mis-sense Mutation glutathione S-transferase pi 1 NM_000852 CGTGGAGGACCTCCGCTGCAAATAC[A/G]TCTCCCTCATCTACACCAACTATGT 67352689 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0.27 0.44 0.13 0.16 Homo sapiens C__29576441_20 GSTP1 PI|DFN7|GST3|GSTP|FAEES3 C/G S110 PharmGKB:PA29028 rs4986948 hCV29576441 Mis-sense Mutation glutathione S-transferase pi 1 NM_000852 TGCAAATACATCTCCCTCATCTACA[C/G]CAACTATGTGAGCATCTGCACCAGG 67352705 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0 0 0 Homo sapiens C___1049615_20 GSTP1 PI|DFN7|GST3|GSTP|FAEES3 C/T V114 PharmGKB:PA29028 rs1138272 hCV1049615 Mis-sense Mutation glutathione S-transferase pi 1 NM_000852 ATACATGGTGGTGTCTGGCAGGAGG[C/T]GGGCAAGGATGACTATGTGAAGGCA 67353579 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0.05 0.02 0 0 Homo sapiens C__30099893_10 GSTP1 PI|DFN7|GST3|GSTP|FAEES3 G/T Y147 PharmGKB:PA29028 rs4986949 hCV30099893 Mis-sense Mutation glutathione S-transferase pi 1 NM_000852 GGGAGGCAAGACCTTCATTGTGGGA[G/T]ACCAGGTGAGCATCTGGCCCCATGC 67353677 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0 0 0.01 Homo sapiens C__25943334_20 ADHFE1 HOT|ADH8|FLJ32430|HMFT2263|MGC48605 A/G D138 rs61737672 hCV25943334 Mis-sense Mutation "alcohol dehydrogenase, iron containing, 1" NM_144650 GCTTTTGATGCCTATGTTGCTGTCG[A/G]TGGTGGCTCTACCATGGACACCTGT 67357512 NCBI Build 37.1 Human "8q13.1b,8q13.1" 8 0 0 0 0 Homo sapiens C__25937508_20 ADHFE1 HOT|ADH8|FLJ32430|HMFT2263|MGC48605 A/C N212 rs61743396 hCV25937508 Mis-sense Mutation "alcohol dehydrogenase, iron containing, 1" NM_144650 GAAAATCCTTATGTTTTAGGCATCA[A/C]TTCGAGAGCCATCAAACCCACACTG 67361106 NCBI Build 37.1 Human "8q13.1b,8q13.1" 8 0 0 0 0 Homo sapiens C__25939478_20 ADHFE1 HOT|ADH8|FLJ32430|HMFT2263|MGC48605 C/G T372 rs2555588 hCV25939478 Silent Mutation "alcohol dehydrogenase, iron containing, 1" NM_144650 CGTCCCCAGCGGTGTTCACTTTCAC[C/G]GCCCAGATGTTTCCAGAGCGACACC 67369355 NCBI Build 37.1 Human "8q13.1b,8q13.1" 8 0.24 0.21 0 0 Homo sapiens C___2912049_20 ADHFE1 HOT|ADH8|FLJ32430|HMFT2263|MGC48605 C/T R449 rs1060242 hCV2912049 Mis-sense Mutation "alcohol dehydrogenase, iron containing, 1" NM_144650 GGAAAGGGTCACCAAGCTTGCACCC[C/T]GTCCCCAGTCAGAAGAGGATCTGGC 67380528 NCBI Build 37.1 Human "8q13.1b,8q13.1" 8 0.47 0.27 0.44 0.35 Homo sapiens C__27492492_20 ALDH3B2 ALDH8 A/G C382|C382 rs3741172 hCV27492492 Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 GCGGGTGGGACGCTCACAGGAGGGT[A/G]CAGCTCTGGGAGCCCATGCCCCAGC 67430698 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0.16 0.09 0.06 0.14 Homo sapiens C__25596335_20 ALDH3B2 ALDH8 C/T | rs58465018 hCV25596335 | "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 CGTAACAGCTGCTGGTTCCAGTCGG[C/T]ATAGGGTGGGTAGTGGATCTCCTTT 67430748 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0.03 0.06 0.01 Homo sapiens C___9576369_20 ALDH3B2 ALDH8 C/T R361|R361 rs1551886 hCV9576369 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 GTTCCAGTCGGTATAGGGTGGGTAG[C/T]GGATCTCCTTTAATTTCTCCAGGCC 67430762 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0.13 0.24 0.06 0.14 Homo sapiens C___9576370_20 ALDH3B2 ALDH8 G/T R290|R290 rs1131740 hCV9576370 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 CCCAACCCGGCCGCACCCCCACCTG[G/T]CTGCTGTTGGAGAAGGCGTACAGGG 67431870 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0 0 0 Homo sapiens C__33385124_20 ALDH3B2 ALDH8 A/G W276|W276 rs17856219 hCV33385124 Mis-sense Mutation|Mis-sense Mutation "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 TACAGGGCCAGGGGCTTCTCCTGCC[A/G]GTTGATGAACTTGATGGCCTCGTCC 67431914 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0.13 0.09 0.06 0.15 Homo sapiens C___9576381_20 ALDH3B2 ALDH8 A/G L37|L37 rs1051493 hCV9576381 Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 ACCAGGAGCACCAGGGTCAGGTTCA[A/G]TGGGTAGTTCCAGGGTGCGATGATG 67434087 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0 0 0 Homo sapiens C__25596310_20 ALDH3B2 ALDH8 A/C | rs4646823 hCV25596310 UTR 5|UTR 5 "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 GTGGTTCATCCTTCATCCAGGCCTG[A/C]AGGTTCTTGAGAGCGTAGTCAACCT 67434416 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0.13 0.41 0.07 0.21 Homo sapiens C__29154804_10 ALDH3B2 ALDH8 A/C | rs7947754 hCV29154804 Intron|Intron "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 CCCCTCACCCCTGTGGCCCCACATA[A/C]CCCAGCGTGGGCTCTGCCCCTGGGT 67441906 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0 0.17 0 0 Homo sapiens C___1147370_20 ALDH3B2 ALDH8 A/C | rs7947978 hCV1147370 UTR 5|Intron "aldehyde dehydrogenase 3 family, member B2" NM_000695|NM_001031615 CTGCTGACTGCGATCCTCCCAGGAG[A/C]CTGGCAGCTCCCAAACCAACTCCCG 67442043 NCBI Build 37.1 Human "11q13.2b,11q13.2" 11 0.14 0.37 0.07 0.21 Homo sapiens C__25594086_20 ALDH3B1 ALDH4|ALDH7|FLJ26433|FLJ34710 C/T S97|S60|S97 rs34280013 hCV25594086 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member B1" NM_000694|NM_001030010|NM_001161473 CGGCCCAGGCCACGCAGCTGGACTC[C/T]GCCTTCATCCGGAAGGAGCCCTTTG 67786259 NCBI Build 37.1 Human "11q13.2c,11q13.2" 11 0 0.03 0 0 Homo sapiens C___2623923_20 ALDH3B1 ALDH4|ALDH7|FLJ26433|FLJ34710 C/T S383|S346|S383 rs2286163 hCV2623923 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member B1" NM_000694|NM_001030010|NM_001161473 AGCGGGTGCTGACCCAGACCAGCAG[C/T]GGGGGCTTCTGTGGGAACGACGGCT 67793509 NCBI Build 37.1 Human "11q13.2c,11q13.2" 11 0.2 0.29 0.25 0.24 Homo sapiens C___7470967_20 ALDH3B1 ALDH4|ALDH7|FLJ26433|FLJ34710 A/G P433|P396|P433 rs308341 hCV7470967 Silent Mutation|Silent Mutation|Silent Mutation "aldehyde dehydrogenase 3 family, member B1" NM_000694|NM_001030010|NM_001161473 ATCGCGCCTGCCTCCTGCGCAGCCC[A/G]GGGATGGAGAAGCTCAACGCCCTCC 67795299 NCBI Build 37.1 Human "11q13.2c,11q13.2" 11 0.15 0.28 0.28 0.22 Homo sapiens C___9440184_20 UGT2B15 HLUG4|UGT2B8|UDPGTH3|UDPGT 2B8|UDPGT2B15 G/T PharmGKB:PA37188 rs4148269 hCV9440184 "UDP glucuronosyltransferase 2 family, polypeptide B15" NM_001076 CTAATCTCTTTTCTTCTTCTTTCCT[G/T]TTTTGGCAAGCTTTCGGAAACAAAA 69512847 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.37 0.27 0.17 0.24 Homo sapiens C__25753755_10 UGT2B15 HLUG4|UGT2B8|UDPGTH3|UDPGT 2B8|UDPGT2B15 C/T T500 PharmGKB:PA37188 rs72551390 hCV25753755 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide B15" NM_001076 ATAAATATCACAGTTGCCACGCAGG[C/T]CAGCAGGAATGCTATCACATCCAAA 69512917 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.01 0 0 0 Homo sapiens C__25649484_10 UGT2B15 HLUG4|UGT2B8|UDPGTH3|UDPGT 2B8|UDPGT2B15 A/G P170 PharmGKB:PA37188 rs72551392 hCV25649484 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide B15" NM_001076 GCCAACAGAGAATCGAAGACTGTAC[A/G]GAAAGGGTATGTTAAATAGTTCAGC 69535828 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0.01 0 0 Homo sapiens C__27028164_10 UGT2B15 HLUG4|UGT2B8|UDPGTH3|UDPGT 2B8|UDPGT2B15 "UGT2B15*2,g.253G>T|UGT2B15*5,g.253G>T" A/C PharmGKB:PA37188 rs1902023 hCV27028164 "UDP glucuronosyltransferase 2 family, polypeptide B15" NM_001076 ATTTTCAGAAGAGAATCTTCCAAAT[A/C]ATTTTTAGTTAAAGATGTAGGATAA 69536084 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.47 0.35 0.43 0.34 Homo sapiens C__34190245_30 UGT2B10 MGC142209|UDPGT2B10 -/G | hCV34190245 | "UDP glucuronosyltransferase 2 family, polypeptide B10" NM_001075|NM_001144767 TACATTTTGGTTACCTTTTTCACAA[-/G]AACAAGAAATCCTGTGGGCAATTAA 69682068 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0 0 Homo sapiens C__34190251_20 UGT2B10 MGC142209|UDPGT2B10 -/C | hCV34190251 | "UDP glucuronosyltransferase 2 family, polypeptide B10" NM_001075|NM_001144767 GAAAGGGCCAACGTAATTGCAACAG[-/C]CCTTGCCAAGATCCCACAAAAGGTA 69688098 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0 0 Homo sapiens C___8729256_30 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI A/G || PharmGKB:PA31744 rs10517 hCV8729256 UTR 3|UTR 3|UTR 3 "NAD(P)H dehydrogenase, quinone 1" NM_000903|NM_001025433|NM_001025434 GTCATGGGACTGGACCCCATCCCAT[A/G]GTAAGTCATCAGTTTAGCAATGATA 69743760 NCBI Build 37.1 Human "16q22.1e,16q22.1" 16 0.13 0.2 0.33 0.4 Homo sapiens C___8729253_20 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI A/G || PharmGKB:PA31744 rs1063556 hCV8729253 UTR 3|UTR 3|UTR 3 "NAD(P)H dehydrogenase, quinone 1" NM_000903|NM_001025433|NM_001025434 AAATGATCCAAAAATGCACGAATAC[A/G]GTCGATTCCCTCTCATTTATTCCTT 69744747 NCBI Build 37.1 Human "16q22.1e,16q22.1" 16 0 0 0 0 Homo sapiens C___8729252_20 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI G/T || PharmGKB:PA31744 rs1050873 hCV8729252 UTR 3|UTR 3|UTR 3 "NAD(P)H dehydrogenase, quinone 1" NM_000903|NM_001025433|NM_001025434 TCGATTCCCTCTCATTTATTCCTTG[G/T]GGAAAAAGAAAAACACAAATCTTAA 69744774 NCBI Build 37.1 Human "16q22.1e,16q22.1" 16 0 0 0 0.01 Homo sapiens C___2091255_30 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI A/G S187|S153|S149 PharmGKB:PA31744 rs1800566 hCV2091255 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "NAD(P)H dehydrogenase, quinone 1" NM_000903|NM_001025433|NM_001025434 TGCCCAATGCTATATGTCAGTTGAG[A/G]TTCTAAGACTTGGAAGCCACAGAAA 69745145 NCBI Build 37.1 Human "16q22.1e,16q22.1" 16 0.23 0.18 0.35 0.45 Homo sapiens C__25609712_30 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI A/G W139|W139| PharmGKB:PA31744 rs1131341 hCV25609712 Mis-sense Mutation|Mis-sense Mutation|Intron "NAD(P)H dehydrogenase, quinone 1" NM_000903|NM_001025433|NM_001025434 AGCATTCAGAACCATCCACCTACCC[A/G]GAAGGGTCCTTTGTCATACATGGCA 69748869 NCBI Build 37.1 Human "16q22.1e,16q22.1" 16 0.02 0.01 0.05 0.02 Homo sapiens C___1035492_30 NQO1 DTD|QR1|DHQU|DIA4|NMOR1|NMORI C/T E24|E24|E24 PharmGKB:PA31744 rs689453 hCV1035492 Silent Mutation|Silent Mutation|Silent Mutation "NAD(P)H dehydrogenase, quinone 1" NM_000903|NM_001025433|NM_001025434 TCTTCTTCAAAGCCGCTGCAGCAGC[C/T]TCCTTCATGGCATAGTTGAAGGACG 69752373 NCBI Build 37.1 Human "16q22.1e,16q22.1" 16 0.06 0.05 0 0 Homo sapiens C____405762_20 UGT2B7 UGT2B9|UDPGTH2|UDPGT2B7|UDPGT 2B9 A/G PharmGKB:PA361 rs4296738 hCV405762 "UDP glucuronosyltransferase 2 family, polypeptide B7" NM_001074 ATGAGCTTGTCCAGAGGGCGCATGA[A/G]GTGCCTGTACTGGCATTTTCAGCTT 69893704 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0.1 0.14 0.22 Homo sapiens C__30720663_20 UGT2B7 UGT2B9|UDPGTH2|UDPGT2B7|UDPGT 2B9 "UGT2B7*2b,c.-327G>A|UGT2B7*2b,g.-327G>A|UGT2B7*2c,c.-327G>A|UGT2B7*2c,g.-327G>A|UGT2B7*2d,c.-327G>A|UGT2B7*2d,g.-327G>A|UGT2B7*2f,c.-327G>A|UGT2B7*2f,g.-327G>A" A/G PharmGKB:PA361 rs7662029 hCV30720663 "UDP glucuronosyltransferase 2 family, polypeptide B7" NM_001074 TTGTGTCAAATGGACTGCAGAAACA[A/G]GATCTGTCACTGCTACTGTTCTGGA 69961912 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.42 0.36 0.3 0.24 Homo sapiens C__27827970_40 UGT2B7 UGT2B9|UDPGTH2|UDPGT2B7|UDPGT 2B9 "UGT2B7*2b,c.-161C>T|UGT2B7*2b,g.-161C>T|UGT2B7*2c,c.-161C>T|UGT2B7*2c,g.-161C>T|UGT2B7*2d,c.-161C>T|UGT2B7*2d,g.-161C>T|UGT2B7*2f,c.-161C>T|UGT2B7*2f,g.-161C>T" C/T PharmGKB:PA361 rs7668258 hCV27827970 "UDP glucuronosyltransferase 2 family, polypeptide B7" NM_001074 CAGATCATTTACCTTCATTTGTCTC[C/T]TTGCCATCCACATGCTCAGACTGTT 69962078 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.42 0.36 0.29 0.27 Homo sapiens C__45181106_10 UGT2B7 UGT2B9|UDPGTH2|UDPGT2B7|UDPGT 2B9 "UGT2B7*3,g.211G>T" G/T S71 PharmGKB:PA361 rs12233719 hCV45181106 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide B7" NM_001074 TCTTTTTGATCCCAACAACTCATCC[G/T]CTCTTAAAATTGAAATTTATCCCAC 69962449 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0.15 0.17 Homo sapiens C__30689135_20 UGT2B7 UGT2B9|UDPGTH2|UDPGT2B7|UDPGT 2B9 "UGT2B7*1d,g.372A>G|UGT2B7*1k,g.372A>G|UGT2B7*3,g.372A>G" A/G R124 PharmGKB:PA361 rs28365063 hCV30689135 Silent Mutation "UDP glucuronosyltransferase 2 family, polypeptide B7" NM_001074 TGTCAATATTTGGTGACATAACTAG[A/G]AAGTTCTGTAAAGATGTAGTTTCAA 69962610 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.18 0.09 0.15 0.21 Homo sapiens C__32449742_20 UGT2B7 UGT2B9|UDPGTH2|UDPGT2B7|UDPGT 2B9 AT/TC PharmGKB:PA361 hCV32449742 "UDP glucuronosyltransferase 2 family, polypeptide B7" NM_001074 AAACTCCTGGAATTTTCAGTTTCC[AT/TC]ATCCACTCTTACCAAATGTTGATT 69964337 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.42 0.36 0.3 0.27 Homo sapiens C__25649443_50 UGT2B7 UGT2B9|UDPGTH2|UDPGT2B7|UDPGT 2B9 C/T F299 PharmGKB:PA361 rs34620993 hCV25649443 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide B7" NM_001074 GAAATGGAAGACTTTGTACAGAGCT[C/T]TGGAGAAAATGGTGTTGTGGTGTTT 69968550 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0 0 Homo sapiens C______4028_20 UGT2B11 MGC129611|MGC129612 A/G L289 rs3890590 hCV4028 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide B11" NM_001073 AACCAACAAAAGTATGTTTACCTTA[A/G]GTAGGGGTTTGGCAGGTTTGCAGTG 70078295 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0 0 Homo sapiens C__30634001_10 UGT2B11 MGC129611|MGC129612 A/G R156 rs7697037 hCV30634001 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide B11" NM_001073 AGTAGCGCAGCCAGCAGCTCACCAC[A/G]GGGAAAAACAGCATCTGCAAAAACG 70079975 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.1 0.24 0.05 0.02 Homo sapiens C__25967668_20 SLC10A1 NTCP|GIG29 G/T I320 rs56903885 hCV25967668 Silent Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 1" NM_003049 TTTCTTCAGTTGTGGCAGCTGTGTA[G/T]ATCATTTTTGTTTTATCTGTAAAGT 70243089 NCBI Build 37.1 Human "14q24.2a,14q24.2" 14 0 0.01 0 0 Homo sapiens C__16184554_10 SLC10A1 NTCP|GIG29 A/G F267 rs2296651 hCV16184554 Mis-sense Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 1" NM_003049 TGGAAAGGCCACATTGAGGATGGTG[A/G]AACAGAGTTGGACATTTTGGCATCC 70245193 NCBI Build 37.1 Human "14q24.2a,14q24.2" 14 0 0 0.03 0.13 Homo sapiens C__25962116_20 SLC10A1 NTCP|GIG29 A/G rs55645214 hCV25962116 "solute carrier family 10 (sodium/bile acid cotransporter family), member 1" NM_003049 TGGCAAACATGATGCTCTTCCCCAC[A/G]TTGATGGCAGAGAGAACTGTGACGG 70246018 NCBI Build 37.1 Human "14q24.2a,14q24.2" 14 0 0.06 0 0 Homo sapiens C__25966311_20 SLC10A1 NTCP|GIG29 C/T K151 rs61329727 hCV25966311 Silent Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 1" NM_003049 CGATGCCTTTATAGGGCACCTTGTC[C/T]TTCAGGTCCCCATCATAGATCCCCC 70252928 NCBI Build 37.1 Human "14q24.2a,14q24.2" 14 0.01 0 0 0 Homo sapiens C__25968512_20 SLC10A1 NTCP|GIG29 C/T rs4646285 hCV25968512 "solute carrier family 10 (sodium/bile acid cotransporter family), member 1" NM_003049 GGAAGACCTTGCCCAGCACAAAGGC[C/T]GTGAGGGGCATGATGCCATACTGTG 70263648 NCBI Build 37.1 Human "14q24.2a,14q24.2" 14 0.15 0.01 0.14 0.18 Homo sapiens C__25959735_20 SLC10A1 NTCP|GIG29 A/G rs56878770 hCV25959735 UTR 5 "solute carrier family 10 (sodium/bile acid cotransporter family), member 1" NM_003049 AGTGGAAGACCACTCCTTGTTCTCC[A/G]GCTGACTCCGTTTCTTGTGCAGTTC 70263911 NCBI Build 37.1 Human "14q24.2a,14q24.2" 14 0 0.06 0 0 Homo sapiens C___2026424_30 UGT2B4 HLUG25|UDPGTH1|UGT2B11|UDPGT2B4 C/T rs1131878 hCV2026424 UTR 3 "UDP glucuronosyltransferase 2 family, polypeptide B4" NM_021139 TCTATACAATTTAATTATTTATTAG[C/T]TTCCTCAACAACAGTTAAAACAACA 70345904 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0.3 0.39 0.06 0.11 Homo sapiens C___8851772_50 UGT2B4 HLUG25|UDPGTH1|UGT2B11|UDPGT2B4 G/T rs1051752 hCV8851772 UTR 3 "UDP glucuronosyltransferase 2 family, polypeptide B4" NM_021139 GACATGTAGTTAAGCTTAGTAAATT[G/T]TTTTTCATGTAACCTGTGAATTGGA 70346057 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0.08 0 0 Homo sapiens C___2026423_50 UGT2B4 HLUG25|UDPGTH1|UGT2B11|UDPGT2B4 G/A rs1966151 hCV2026423 UTR 3 "UDP glucuronosyltransferase 2 family, polypeptide B4" NM_021139 GCTCAATACATTTCAATATAACCTC[G/A]TATGGCTTTATATCATTTTTGTTTT 70346127 NCBI Build 37.1 Human "4q13.2,4q13.2c" 4 0.14 0.32 0.32 0.45 Homo sapiens C__34816105_20 UGT2B4 HLUG25|UDPGTH1|UGT2B11|UDPGT2B4 "UGT2B4*3,c.1186T>C" A/G L396 rs72552707 hCV34816105 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide B4" NM_021139 GCAATGTTATCAGGTTGATCTGCAA[A/G]CAATGGAACGCCCACCATAGGGATT 70351050 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0 0 Homo sapiens C__11990778_30 UGT2B4 HLUG25|UDPGTH1|UGT2B11|UDPGT2B4 C/T T316 rs1845555 hCV11990778 Silent Mutation "UDP glucuronosyltransferase 2 family, polypeptide B4" NM_021139 CAATTACATTGGCCCTTTCTTCTGA[C/T]GTGTTACTGACCATCGACCCCAGAG 70355211 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0 0 Homo sapiens C__34816104_20 UGT2B4 HLUG25|UDPGTH1|UGT2B11|UDPGT2B4 "UGT2B4*3,c.325T>C" A/G hCV34816104 "UDP glucuronosyltransferase 2 family, polypeptide B4" NM_021139 CACATGATTTCTTGTACTTGTGAAA[A/G]ATATGACCAAAATGTGTCTTTTGGA 70361255 NCBI Build 37.1 Human "4q13.2c,4q13.2" 4 0 0 0 0 Homo sapiens C__30634076_10 UGT2A1 C/T Q508 rs4148310 hCV30634076 Silent Mutation "UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus" NM_006798 ATTTTTGACAGGAAAACAAACAACA[C/T]TGTATGACCAAAAATATAGCCGTTG 70455150 NCBI Build 37.1 Human "4q13.2,4q13.2c" 4 0 0 0 0 Homo sapiens C___8851830_30 UGT2A1 C/T K75 rs1347046 hCV8851830 Mis-sense Mutation "UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus" NM_006798 TATTCTTTCTTTGCCAAAGGGCACC[C/T]TATATATTTCAAATGTCAGAGATGG 70513139 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C____267552_20 SULT1B1 ST1B1|ST1B2|SULT1B2|MGC13356 A/G M261 PharmGKB:PA415 rs11569729 hCV267552 Mis-sense Mutation "sulfotransferase family, cytosolic, 1B, member 1" NM_014465 GAAGTAATTCTTCCAGTCACCAGCC[A/G]TCCCTAAAGGTAAATAAAAAAACAT 70592915 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__30633926_10 SULT1B1 ST1B1|ST1B2|SULT1B2|MGC13356 G/T D204 PharmGKB:PA415 rs4149416 hCV30633926 Mis-sense Mutation "sulfotransferase family, cytosolic, 1B, member 1" NM_014465 CTAGAAATCTAATGATCTTCTTGAT[G/T]TCCTCCTTTGGATTCTATTAGTGGG 70596385 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0.01 0.01 Homo sapiens C__31210656_10 SULT1B1 ST1B1|ST1B2|SULT1B2|MGC13356 A/T P188 PharmGKB:PA415 rs13106114 hCV31210656 Silent Mutation "sulfotransferase family, cytosolic, 1B, member 1" NM_014465 TATCTTCATAGTACAAAAAAAGTAT[A/T]GGGTGTTCTTCCTTTTTCTTCCACC 70599164 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__33244482_10 SULT1B1 ST1B1|ST1B2|SULT1B2|MGC13356 C/T R183 PharmGKB:PA415 rs17850691 hCV33244482 Mis-sense Mutation "sulfotransferase family, cytosolic, 1B, member 1" NM_014465 AAAAAGTATTGGGTGTTCTTCCTTT[C/T]TCTTCCACCAGTTTTTAACATGAGT 70599180 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__31210664_20 SULT1B1 ST1B1|ST1B2|SULT1B2|MGC13356 A/C V145 PharmGKB:PA415 rs11569736 hCV31210664 Mis-sense Mutation "sulfotransferase family, cytosolic, 1B, member 1" NM_014465 GGAAAAGGCTGTAAATTATTCATTA[A/C]GTCAAAATGGTAATATGAGACTGAA 70599925 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0.08 0 0 Homo sapiens C__25619928_40 SULT1B1 ST1B1|ST1B2|SULT1B2|MGC13356 C/T R109 PharmGKB:PA415 rs57806190 hCV25619928 Mis-sense Mutation "sulfotransferase family, cytosolic, 1B, member 1" NM_014465 TTTAGGAAGAAGATCAGTCGGTAGA[C/T]GTGTTTTCACAATCCGGGGTGATGG 70615488 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0.01 0 0 0 Homo sapiens C__33244499_10 SULT1B1 ST1B1|ST1B2|SULT1B2|MGC13356 -/G PharmGKB:PA415 hCV33244499 "sulfotransferase family, cytosolic, 1B, member 1" NM_014465 ATTTTCAGGCAGTGAAGCTGCTGTA[-/G]GAGTAACCATGGGAAACGGTGGTGG 70626232 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__31210777_10 SULT1E1 EST|STE|EST-1|MGC34459 G/T H253 PharmGKB:PA340 rs11569712 hCV31210777 Mis-sense Mutation "sulfotransferase family 1E, estrogen-preferring, member 1" NM_005420 ATTTTTCTCACCCTTTCTCATGAAG[G/T]GCGACAATTTCTGGTTCATAATTTC 70709893 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__25618669_20 SULT1E1 EST|STE|EST-1|MGC34459 A/G S153 PharmGKB:PA340 rs11569708 hCV25618669 Silent Mutation "sulfotransferase family 1E, estrogen-preferring, member 1" NM_005420 TGAATTTCTCCACAAACTCTGGAAA[A/G]GATCCAGGATTTGGATGACCAGCCA 70715192 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__31210816_10 SULT1E1 EST|STE|EST-1|MGC34459 A/G PharmGKB:PA340 rs11569714 hCV31210816 "sulfotransferase family 1E, estrogen-preferring, member 1" NM_005420 GGTTTTCTTTTCTGCATTCCAGGAA[A/G]GGTATTCGATTAAAAATTACATCTT 70721053 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0.01 0 0 0 Homo sapiens C__31210823_10 SULT1E1 EST|STE|EST-1|MGC34459 A/G V32 PharmGKB:PA340 rs34547148 hCV31210823 Mis-sense Mutation "sulfotransferase family 1E, estrogen-preferring, member 1" NM_005420 AAGATCATCTGGTCTTGCCTGGAAC[A/G]CTTCCACATTATCCCAATATTTGAC 70723268 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__31210824_10 SULT1E1 EST|STE|EST-1|MGC34459 A/C Y22 PharmGKB:PA340 rs11569705 hCV31210824 Mis-sense Mutation "sulfotransferase family 1E, estrogen-preferring, member 1" NM_005420 ACATTATCCCAATATTTGACAAAAT[A/C]TTTATACATTAGAATCCCATGGACT 70723299 NCBI Build 37.1 Human "4q13.3a,4q13.3" 4 0 0 0 0 Homo sapiens C__30633927_10 SULT1E1 EST|STE|EST-1|MGC34459 C/T PharmGKB:PA340 rs3736599 hCV30633927 UTR 5 "sulfotransferase family 1E, estrogen-preferring, member 1" NM_005420 ATCTAGTTTATATCTCTTCAAATAC[C/T]AAGGCAGATCTTAAGCTGCAAAAAA 70725821 NCBI Build 37.1 Human "4q13.3,4q13.3a" 4 0.11 0.2 0.26 0.24 Homo sapiens C___2827931_20 CHST4 GST3|LSST|GlcNAc6ST2|HECGLCNAC6ST C/T | rs55676788 hCV2827931 |UTR 5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 NM_001166395|NM_005769 CTCCCCACCCCTTGAGTCTCAGCAG[C/T]GTTAAAGCTGTTACTTTCACAGCTT 71560153 NCBI Build 37.1 Human "16q22.2a,16q22.2" 16 0.14 0.01 0 0 Homo sapiens C__32949054_10 CHST4 GST3|LSST|GlcNAc6ST2|HECGLCNAC6ST -/C R138|R138 rs72547534 hCV32949054 Mis-sense Mutation|Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 NM_001166395|NM_005769 CCGGGCCCTGTGTTCTGCACCTGCC[-/C]TGTGACATCATCCCACAAGATGAAA 71570992 NCBI Build 37.1 Human "16q22.2a,16q22.2" 16 0 0 0 0 Homo sapiens C__27520317_20 CHST4 GST3|LSST|GlcNAc6ST2|HECGLCNAC6ST A/C Q361|Q361 rs3813744 hCV27520317 Mis-sense Mutation|Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 NM_001166395|NM_005769 CCATGAATTTGCTGGGCTACCGCCA[A/C]GTCAGATCTGAACAAGAACAGAGAA 71571663 NCBI Build 37.1 Human "16q22.2a,16q22.2" 16 0 0 0 0 Homo sapiens C__27510135_20 CHST3 HSD|C6ST|C6ST1 C/G M348 rs3740128 hCV27510135 Mis-sense Mutation carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 GGCTGCGGGGCAACTGCGAGAGCAT[C/G]CGCCTGTCCGCGGAGCTGGGGCTGC 73767833 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0 0 0.02 0 Homo sapiens C__29045384_10 CHST3 HSD|C6ST|C6ST1 A/C rs4148941 hCV29045384 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 ATGACACACCTCAGAGGAGCCTGTG[A/C]TTAACATTTGTAGGATTATTTCGAG 73768992 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.37 0.15 0.35 0.34 Homo sapiens C__30633885_10 CHST3 HSD|C6ST|C6ST1 C/T rs4148943 hCV30633885 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 AGTGCCTGGAATTCCTCCTTAGGGC[C/T]CTGGGAAGAGTATTGCTTAACGCAG 73769507 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.49 0.36 0.17 0.07 Homo sapiens C__30633887_10 CHST3 HSD|C6ST|C6ST1 C/T rs4148945 hCV30633887 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TTATGGCTTGGTGTCTTTCTTGTTT[C/T]ATGGCTGTGTTTTTGCTTTTGTTTC 73769590 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.49 0.11 0.13 0.07 Homo sapiens C___1904468_20 CHST3 HSD|C6ST|C6ST1 C/T rs4148946 hCV1904468 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 GTTTGCCGAGGGCTGCCCAGCTCTG[C/T]TTCTGGTTTCCTGGACAATTTCTCT 73770073 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.37 0.23 0.38 0.34 Homo sapiens C___1904467_20 CHST3 HSD|C6ST|C6ST1 C/T rs4148947 hCV1904467 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TTTCTCTGTCAGATACGGCCCATTG[C/T]AAACCCAGAGGGCTGCATTTTGGGT 73770117 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.49 0.27 0.13 0.08 Homo sapiens C__11753308_20 CHST3 HSD|C6ST|C6ST1 C/T rs4148949 hCV11753308 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 CTAGGGGCCCTGCTAATGTGGACAG[C/T]AGACTTTATCCCTCCTTCTTACTCT 73770651 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.35 0.19 0.36 0.34 Homo sapiens C__30633889_10 CHST3 HSD|C6ST|C6ST1 A/G rs4148950 hCV30633889 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 GAAGACCAGATGTGCATAGAAGCCA[A/G]TCTCTGTCACATACACCGCAGGTGG 73771706 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.49 0.26 0.13 0.07 Homo sapiens C__30633890_10 CHST3 HSD|C6ST|C6ST1 A/G rs4148951 hCV30633890 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 GAACATAAAGCAAATTTAGGCTTTT[A/G]TCCTTCTGCAATACATGCACTTGAA 73771784 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0 0.1 0.05 0 Homo sapiens C___1904466_20 CHST3 HSD|C6ST|C6ST1 A/G rs1871450 hCV1904466 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 GCAATGGAAGGAGCTTCAGCAGGAG[A/G]TCCTTCCCAGAAGGTTGATTCTTGG 73772014 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.49 0.27 0.13 0.07 Homo sapiens C__30633891_10 CHST3 HSD|C6ST|C6ST1 G/T rs1871451 hCV30633891 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 GTGGCTCATACCTGTAATCCCAGCA[G/T]TTGGGGAGGCCAAGGTGGGAGGATT 73772161 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.37 0.15 0.36 0.34 Homo sapiens C____931603_20 CHST3 HSD|C6ST|C6ST1 C/T rs731027 hCV931603 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 CATCCCCATTCCCAAAGTCAGAAAG[C/T]GAAGCCAGATCTCAAGGGCTGATAC 73772336 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.49 0.36 0.17 0.07 Homo sapiens C____931602_20 CHST3 HSD|C6ST|C6ST1 C/G rs730722 hCV931602 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TACCTCAAAAGCACAAAGCAGAATT[C/G]GCAACTTCACTTGTCTCAAGAGCTC 73772650 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.09 0.4 0.19 0.27 Homo sapiens C___1904464_20 CHST3 HSD|C6ST|C6ST1 A/T rs1871452 hCV1904464 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 CACAAAGCAGAATTGGCAACTTCAC[A/T]TGTCTCAAGAGCTCCAAGATCCTTT 73772661 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.35 0.19 0.36 0.35 Homo sapiens C____931601_20 CHST3 HSD|C6ST|C6ST1 A/G rs730721 hCV931601 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TTTGGCACCCCGTAACTGGACTGGG[A/G]ACAAATTTGTTACGTGTTTCCAAGG 73772724 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0 0 0 0 Homo sapiens C__30633892_10 CHST3 HSD|C6ST|C6ST1 A/G rs4148953 hCV30633892 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TTGCTATTTCATGTCTGCATGGTAC[A/G]AGACACCCCTTCACGGCATACACTG 73772999 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0 0.16 0.13 0.2 Homo sapiens C___1904462_20 CHST3 HSD|C6ST|C6ST1 A/G rs12418 hCV1904462 UTR 3 carbohydrate (chondroitin 6) sulfotransferase 3 NM_004273 TGCATGGTACGAGACACCCCTTCAC[A/G]GCATACACTGCCATGGTATGTACAT 73773014 NCBI Build 37.1 Human "10q22.1f,10q22.1" 10 0.49 0.26 0.13 0.07 Homo sapiens C____587841_20 ABCB7 ABC7|ASAT|Atm1p|EST140535 A/C M401 PharmGKB:PA24389 rs72554634 hCV587841 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 7" NM_004299 TAGCCACAGACTCATTACCTGCCAC[A/C]ATTCCCTGACTGGCGAGCACCATTA 74291351 NCBI Build 37.1 Human "Xq13.3a,Xq13.3" X 0 0 0 0 Homo sapiens C___7422622_30 ABCB7 ABC7|ASAT|Atm1p|EST140535 A/G F360 PharmGKB:PA24389 rs1054919 hCV7422622 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 7" NM_004299 ATGAAGCAGTCTCATACGTCTTCAA[A/G]AATCCATCATATCTCTGTGCTTCAT 74291474 NCBI Build 37.1 Human "Xq13.3a,Xq13.3" X 0 0 0 0 Homo sapiens C___7422630_20 ABCB7 ABC7|ASAT|Atm1p|EST140535 A/C C291 PharmGKB:PA24389 rs1133577 hCV7422630 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 7" NM_004299 AGGGTTACCAAAGCAAACTGGGCAC[A/C]GCATTTGTAATACTAGAAAAGGAAG 74293779 NCBI Build 37.1 Human "Xq13.3a,Xq13.3" X 0 0 0 0 Homo sapiens C___7422632_30 ABCB7 ABC7|ASAT|Atm1p|EST140535 C/T K259 PharmGKB:PA24389 rs1054913 hCV7422632 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 7" NM_004299 AGCACTCAGGACAAAACTGATACCC[C/T]TTGTTCCTCTGTCAATAGCCTTAGA 74295279 NCBI Build 37.1 Human "Xq13.3a,Xq13.3" X 0 0 0 0 Homo sapiens C____263247_20 ABCB7 ABC7|ASAT|Atm1p|EST140535 C/T PharmGKB:PA24389 rs61323727 hCV263247 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 7" NM_004299 ATGTAGACATGTTTGCTCAATCTTA[C/T]CTTTGCAGCATCTAAGAACTGTCCT 74334588 NCBI Build 37.1 Human "Xq13.3a,Xq13.3" X 0.01 0.01 0 0 Homo sapiens C__11606340_10 ALDH6A1 MMSDH|MMSADHA|MGC40271 C/T G518 rs15566 hCV11606340 Mis-sense Mutation "aldehyde dehydrogenase 6 family, member A1" NM_005589 AGGTGAGGAAAGAGTAGCATCTTCT[C/T]CTTTCCACTGAGAAGTAATGGTCTT 74527400 NCBI Build 37.1 Human "14q24.3a,14q24.3" 14 0 0 0 0 Homo sapiens C__27528089_10 ALDH6A1 MMSDH|MMSADHA|MGC40271 C/T R446 rs72552258 hCV27528089 Mis-sense Mutation "aldehyde dehydrogenase 6 family, member A1" NM_005589 CCATTGGTGGTGAAGATGGCAGTTC[C/T]ATTTCCATATGGGTTGTTATTTACA 74531952 NCBI Build 37.1 Human "14q24.3a,14q24.3" 14 0 0 0 0 Homo sapiens C__25995016_20 ALDH6A1 MMSDH|MMSADHA|MGC40271 C/T rs8008790 hCV25995016 "aldehyde dehydrogenase 6 family, member A1" NM_005589 GAAGCATAGTTGCTCCAGGGACTCG[C/T]TCAGATGGTTTCATTAGGAAGGTAT 74537992 NCBI Build 37.1 Human "14q24.3a,14q24.3" 14 0 0.03 0 0 Homo sapiens C__27968056_20 ALDH6A1 MMSDH|MMSADHA|MGC40271 C/T V138 rs4899491 hCV27968056 Silent Mutation "aldehyde dehydrogenase 6 family, member A1" NM_005589 CTCCCAGCTTACGAAGGCCTCGAAA[C/T]ACATCTCCTTCAGCATCAGCTAGGG 74538612 NCBI Build 37.1 Human "14q24.3,14q24.3a" 14 0 0.01 0 0 Homo sapiens C__25996869_20 ALDH6A1 MMSDH|MMSADHA|MGC40271 A/G T51A rs61745707 hCV25996869 Mis-sense Mutation "aldehyde dehydrogenase 6 family, member A1" NM_005589 ATATCGATCCATTTGTCACTTTTGG[A/G]TTCAACGAATTTCCCACCAATGAAG 74539275 NCBI Build 37.1 Human "14q24.3a,14q24.3" 14 0 0 0 0 Homo sapiens C__25624897_20 CYP11A1 CYP11A|P450SCC C/T R364|R206 rs57982762 hCV25624897 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 11, subfamily A, polypeptide 1" NM_000781|NM_001099773 CTGTAGCATCGTGGCCATGTCTCCC[C/T]GGGCCTGGTGCCGCGCAGCCAAGAC 74631994 NCBI Build 37.1 Human "15q24.1,15q24.1b" 15 0.01 0 0 0 Homo sapiens C__27859800_10 CYP11A1 CYP11A|P450SCC A/G W353|W195 rs72547508 hCV27859800 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 11, subfamily A, polypeptide 1" NM_000781|NM_001099773 TGCCGCGCAGCCAAGACCTCTGCCC[A/G]CAGCATATCCTGCACCTTCAGGTTG 74632028 NCBI Build 37.1 Human "15q24.1,15q24.1b" 15 0 0 0 0 Homo sapiens C___8870301_30 CYP11A1 CYP11A|P450SCC C/G M301|M143 rs1049968 hCV8870301 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 11, subfamily A, polypeptide 1" NM_000781|NM_001099773 TGCTGTCTCCCAGGAGTCTGTAGAG[C/G]ATGCCACGGTAATCGTGGTGAACAC 74635405 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__12063811_30 CYP11A1 CYP11A|P450SCC A/G N212|N54 rs6160 hCV12063811 Silent Mutation|Silent Mutation "cytochrome P450, family 11, subfamily A, polypeptide 1" NM_000781|NM_001099773 TCCCCTGGCGCTCCCCAAAAATGAC[A/G]TTAGTGATGGCTGCAGGGAGAGGAA 74636323 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__25624894_20 CYP11A1 CYP11A|P450SCC C/T I179|I21 rs58174009 hCV25624894 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 11, subfamily A, polypeptide 1" NM_000781|NM_001099773 TTGATGCGCCTGTGCAGGACACTGA[C/T]GAAGTCCCGAGACACTGCATCCAAC 74637475 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0.01 0 0 Homo sapiens C__26204088_30 CYP11A1 CYP11A|P450SCC C/T Y16| rs1130841 hCV26204088 Mis-sense Mutation| "cytochrome P450, family 11, subfamily A, polypeptide 1" NM_000781|NM_001099773 CCTGGGGGCACTCAGAAAGGTCTGG[C/T]AGCCTTTGACCAGGACTGAGCGTGG 74659880 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__16130000_30 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T || rs2851069 hCV16130000 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 TCCAGGAGCCCCTGAGAAGATTTGC[C/T]TCCTCTCCCCTGCTAAGCTCCAGGT 74862356 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0.5 0.26 0.2 0.34 Homo sapiens C__12017839_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G || rs1944612 hCV12017839 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 CTGCTAAGCTCCAGGTCCTGAGATT[A/G]AATTAGGGGCTGGAGCTCACTGCAC 74862391 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0 0 0.09 0.13 Homo sapiens C__25754499_10 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T || rs56837383 hCV25754499 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 GCCAGCGGGTGAGGTACCCCAGGTA[C/T]CAGACAAGGAAACCAAAGCCACAAT 74873726 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0 0.01 0 0 Homo sapiens C___8750264_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G || rs1109407 hCV8750264 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 TGGCGGGCCTGCTCATGACTCTCCC[A/G]CACTTCATCTCGGAGCCATACCGCT 74876951 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0 0.11 0 0 Homo sapiens C__25606765_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 G/A || rs35199625 hCV25606765 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 GTTCGTGGCACAGACCCTGCTGGGC[G/A]TGGGCGGGGTGCCCATTCAGCCCTT 74880370 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0.01 0 0.02 0.09 Homo sapiens C___3101331_10 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G || rs12422149 hCV3101331 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 GAAAAACGTGAGCTTCAGTTTCGGC[A/G]AAAGGTCTTAGCAGTCACAGACTCA 74883577 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0.16 0.16 0.34 0.3 Homo sapiens C___8750223_30 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T || rs1621378 hCV8750223 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 TCATCCATGGCTGCGGGCATGGCCA[C/T]CTTCCTGCCCAAGTTCCTGGAGCGC 74904362 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0 0 0 0 Homo sapiens C__16193013_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T || rs2306168 hCV16193013 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 AGTGCCCACCCTGGGCTGGAGCTGT[C/T]TCCAAGCTGCATGGAGGCCTGCTCC 74907582 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0.01 0.29 0.32 0.17 Homo sapiens C__25606740_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T || rs59305495 hCV25606740 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 CATTGGACGGCTTTAACCCTGTCTG[C/T]GACCCCAGCACTCGTGTGGAATACA 74907637 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0 0.01 0 0 Homo sapiens C__25606741_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T || rs61555831 hCV25606741 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 TGGTCCAGGATGCTCTGGACAACAG[C/T]CAGGTGAGTCAGGCCTCTCGTGGCA 74907721 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0 0.19 0.01 0.02 Homo sapiens C__32063860_10 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 C/T || rs12278213 hCV32063860 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 TCAGCCTGGGCTCGGCCCTGGCCTG[C/T]CTCACCCACACACCCTCCTTCATGC 74911397 NCBI Build 37.1 Human "11q13.4,11q13.4c" 11 0 0.02 0 0 Homo sapiens C__25606755_20 SLCO2B1 OATPB|OATP-B|OATP2B1|SLC21A9|KIAA0880|DKFZp686E0517 A/G || rs57141326 hCV25606755 || "solute carrier organic anion transporter family, member 2B1" NM_001145211|NM_001145212|NM_007256 CTGCCGTAGAGCAGCAATTGCTAGT[A/G]TCGGGGCCAGGGAAGAAGCCAGAGG 74915586 NCBI Build 37.1 Human "11q13.4c,11q13.4" 11 0 0.08 0 0 Homo sapiens C___8879532_20 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*3,g.3205T>C" A/G rs1800031 hCV8879532 UTR 3 "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 ACAGCAATAAGGGTCTTACAAGGCC[A/G]GAAGGCAGCCCTGTTTGTTCCTGCC 75012235 NCBI Build 37.1 Human "15q24.1,15q24.1b" 15 0 0 0 0 Homo sapiens C__30634154_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*11,g.2546C>G" C/G R492 rs28399430 hCV30634154 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 ATGCTTCATGGTTAGCCCATAGATG[C/G]GGGTCATGTCCACCTTCACGCCCAG 75012894 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__25624887_30 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1,g.2515G>A" C/T rs28399429 hCV25624887 "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 ATGTCCACCTTCACGCCCAGTGGCA[C/T]GCTGAATTCCACCCGTTGCAGCAGG 75012925 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.02 0 0 0 Homo sapiens C__30634153_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*10,g.2500C>T" A/G W477 rs56240201 hCV30634153 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 CCCAGTGGCACGCTGAATTCCACCC[A/G]TTGCAGCAGGATAGCCAGGAAGAGA 75012940 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C_30634152D_80 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*5,g.2461C>A|CYP1A1*5,g.2461C>T|CYP1A1*9,g.2461C>T" G/A S464 rs41279188 hCV30634152 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 GCCAGGAAGAGAAAGACCTCCCAGC[G/A]GGCAATGGTCTCACCGATACACTTC 75012979 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C_30634152C_70 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*5,g.2461C>A|CYP1A1*5,g.2461C>T|CYP1A1*9,g.2461C>T" G/T S464 rs41279188 hCV30634152 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 GCCAGGAAGAGAAAGACCTCCCAGC[G/T]GGCAATGGTCTCACCGATACACTTC 75012979 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__15966755_20 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR C/G G463 rs2278970 hCV15966755 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 CAGGAAGAGAAAGACCTCCCAGCGG[C/G]CAATGGTCTCACCGATACACTTCCG 75012981 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__25624888_50 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*2B,g.2455A>G|CYP1A1*2C,g.2455A>G" C/T rs1048943 hCV25624888 "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 AAGAGAAAGACCTCCCAGCGGGCAA[C/T]GGTCTCACCGATACACTTCCGCTTG 75012985 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.08 0.02 0.16 0.23 Homo sapiens C___8879531_40 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*4,g.2453C>A" T/G N461 rs1799814 hCV8879531 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 GAGAAAGACCTCCCAGCGGGCAATG[T/G]TCTCACCGATACACTTCCGCTTGCC 75012987 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0.02 0 0 Homo sapiens C__30634151_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*8,g.2414T>A" A/T N448 rs72547509 hCV30634151 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 CTTCCGCTTGCCCATGCCAAAGATA[A/T]TCACCTTCTCACTTAACACCTTGTC 75013026 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__32287223_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*7,g.2346_2347insT" A/- S425S rs72547510 hCV32287223 Frame Shift InDel "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 TGAGAAACCGTTCAGGTAGGAACTC[A/-]AGATGGGTTGACCCATAGCTTCCTG 75013094 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__16075832_60 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR G/T L381 rs2856833 hCV16075832 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 ACCTGTGGGGGATGGTGAAGGGGAC[G/T]AAGGAAGAGTGTCGGAAGGTCTCCA 75013563 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__30634150_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*6,g.1636G>T" C/T rs56313657 hCV30634150 "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 GTACCCTGGGGTTCATCACCAAATA[C/T]ATGAGGCTCCAGGAGATAGCAGTTG 75013804 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__30634149_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1,g.1413T>C" A/G T286 rs4987133 hCV30634149 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 CAGCTGCTTCTCCTGACAGTGCTCA[A/G]TCAGGCTGTCTGTGATGTCCCGGAT 75014027 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.01 0 0 0 Homo sapiens C__30634148_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR A/G W279 rs34260157 hCV30634148 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 TCAATCAGGCTGTCTGTGATGTCCC[A/G]GATGTGGCCCTTAGGTAGGGAAAGT 75014049 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__25922378_20 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1,g.233T>C" A/G rs17861094 hCV25922378 "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 CAGCACCACCACGGGTGTGGAGCCA[A/G]TTCGGATCTGCAGCACGTCCCCATA 75015206 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0.08 0 0 Homo sapiens C__30634147_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR C/T D45 rs4646422 hCV30634147 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 CAGCATGTGCCCAATCAGAGGCCAG[C/T]CCCATGGCCCTGGTGGATTCTTCAG 75015305 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0.15 0.08 Homo sapiens C__60142854_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1,g.-33T>C" A/G rs28399425 hCV60142854 Intron "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 GTAGGGATCTTGGAGGTGGCTGCTG[A/G]GAGAAGGTGCAGGAAGAAAAAAAGT 75015471 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0.01 0.01 Homo sapiens C__30634336_10 CYP1A1 CP11|CYP1|P1-450|P450-C|P450DX|AHH|AHRR "CYP1A1*1B,g.-3219C>T" A/G rs35686934 hCV30634336 "cytochrome P450, family 1, subfamily A, polypeptide 1" NM_000499 CGGCAGGCGGGGGCGGGGCTGCCCC[A/G]TGGTGACCTCCTTCCCGGGGTTACT 75018330 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.03 0 0 0 Homo sapiens C__15859191_30 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*1C,g.-3860G>A|CYP1A2*1L,g.-3860G>A" G/A PharmGKB:PA27093 rs2069514 hCV15859191 "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 TGGCTCACCGCAACCTCCGCCTCTC[G/A]GATTCAAGCAATTGTCATGCCCCAG 75038220 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.02 0.29 0.15 0.27 Homo sapiens C__60142977_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*1D,c.-2467delT|CYP1A2*1D,g.-2467delT|CYP1A2*1L,c.-2467delT|CYP1A2*1L,g.-2467delT|CYP1A2*1N,c.-2467delT|CYP1A2*1N,g.-2467delT|CYP1A2*1P,c.-2467delT|CYP1A2*1P,g.-2467delT|CYP1A2*1R,c.-2467delT|CYP1A2*1R,g.-2467delT|CYP1A2*1V,c.-2467delT|CYP1A2*1V,g.-2467delT|CYP1A2*1W,c.-2467delT|CYP1A2*1W,g.-2467delT" T/- PharmGKB:PA27093 rs35694136 hCV60142977 "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 TGCAGTGAGCCATGATTGTGGCACA[T/-]GAACCCCAACCTGGGTGACAGAGCA 75039613 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.12 0.48 0.4 0.48 Homo sapiens C__16017734_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*1E,g.-739T>G|CYP1A2*1G,g.-739T>G|CYP1A2*1J,g.-739T>G|CYP1A2*1K,g.-739T>G|CYP1A2*1W,g.-739T>G" G/T PharmGKB:PA27093 rs2069526 hCV16017734 Intron "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GGGGAGCCTGGGCTAGGTGTAGGGG[G/T]CCTGAGTTCCGGGCTTTGCTACCCA 75041341 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.06 0.13 0.04 0.14 Homo sapiens C__30634146_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*1K,g.-729C>T" C/T PharmGKB:PA27093 rs12720461 hCV30634146 Intron "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GGCTAGGTGTAGGGGTCCTGAGTTC[C/T]GGGCTTTGCTACCCAGCTCTTGACT 75041351 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0.01 0 0 Homo sapiens C___8881221_40 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*1Q,g.-163C>A|CYP1A2*1R,g.-163C>A|CYP1A2*1V,g.-163C>A|CYP1A2*1W,g.-163C>A|CYP1A2*1F,g.-163C>A|CYP1A2*1J,g.-163C>A|CYP1A2*1K,g.-163C>A|CYP1A2*1L,g.-163C>A|CYP1A2*1M,g.-163C>A|CYP1A2*1N,g.-163C>A|CYP1A2*1P,g.-163C>A" C/A PharmGKB:PA27093 rs762551 hCV8881221 Intron "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 TGCTCAAAGGGTGAGCTCTGTGGGC[C/A]CAGGACGCATGGTAGATGGAGCTTA 75041917 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.21 0.36 0.36 0.31 Homo sapiens C__34624742_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2,g.53C>G" C/G C18 PharmGKB:PA27093 rs17861152 hCV34624742 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 TCGGCCACAGAGCTTCTCCTGGCCT[C/G]TGCCATCTTCTGCCTGGTATTCTGG 75042132 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__30634248_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*2,g.63C>G" C/G L21 PharmGKB:PA27093 rs56160784 hCV30634248 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 AGCTTCTCCTGGCCTCTGCCATCTT[C/G]TGCCTGGTATTCTGGGTGCTCAAGG 75042142 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__72649743_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*15,g.125C>G" C/G R42 PharmGKB:PA27093 rs72547511 hCV72649743 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 CGGGTCCCCAAAGGCCTGAAAAGTC[C/G]ACCAGAGCCATGGGGCTGGCCCTTG 75042204 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__27472142_10 CYP1A2 CP12|P3-450|P450(PA) A/G K44 PharmGKB:PA27093 rs3743482 hCV27472142 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 CCCCAAAGGCCTGAAAAGTCCACCA[A/G]AGCCATGGGGCTGGCCCTTGCTCGG 75042209 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__34624739_40 CYP1A2 CP12|P3-450|P450(PA) C/T G102 PharmGKB:PA27093 rs17861154 hCV34624739 Silent Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 TCCGGCAGGCCCTGGTGCGGCAGGG[C/T]GACGATTTCAAGGGCCGGCCTGACC 75042385 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__25624898_30 CYP1A2 CP12|P3-450|P450(PA) A/G H138 PharmGKB:PA27093 rs59410695 hCV25624898 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GGACCGGTGTGGGCTGCCCGCCGGC[A/G]CCTGGCCCAGAATGCCCTCAACACC 75042492 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.02 0 0 0 Homo sapiens C__34816152_20 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*10,g.502G>C" C/G Q168 PharmGKB:PA27093 rs72547512 hCV34816152 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 CTACCTGGAGGAGCATGTGAGCAAG[C/G]AGGCTAAGGCCCTGATCAGCAGGTT 75042581 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__34816151_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*11,g.558C>A" A/C L186 PharmGKB:PA27093 rs72547513 hCV34816151 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 AGCTGATGGCAGGGCCTGGGCACTT[A/C]GACCCTTACAATCAGGTGGTGGTGT 75042637 NCBI Build 37.1 Human "15q24.1,15q24.1b" 15 0 0 0 0 Homo sapiens C__34624738_10 CYP1A2 CP12|P3-450|P450(PA) C/T F205 PharmGKB:PA27093 rs17861155 hCV34624738 Silent Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 CCAACGTCATTGGTGCCATGTGCTT[C/T]GGACAGCACTTCCCTGAGAGTAGCG 75042694 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__25624900_30 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2,g.1513C>A" A/C R298 PharmGKB:PA27093 rs17861157 hCV25624900 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 ACAGCAAGAAGGGGCCTAGAGCCAG[A/C]GGCAACCTCATCCCACAGGAGAAGA 75043592 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0.07 0 0 Homo sapiens C__60143006_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2,g.1559A>G" A/G V314 PharmGKB:PA27093 rs28399418 hCV60143006 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GAAGATTGTCAACCTTGTCAATGAC[A/G]TCTTTGGAGCAGGTAGGAACCAGAA 75043638 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0.01 0 0 0 Homo sapiens C__30634247_20 CYP1A2 CP12|P3-450|P450(PA) CYP1A2*3 g.2116G>A A/G N348 PharmGKB:PA27093 rs56276455 hCV30634247 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 ACAGAGGAAGATCCAGAAGGAGCTG[A/G]GTACATGGGGGCCCCCAACCCTATA 75044195 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__34816147_10 CYP1A2 CP12|P3-450|P450(PA) A/G PharmGKB:PA27093 rs72547514 hCV34816147 Intron "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 CTCTGCTTGTCCTCTGTGTTCTACA[A/G]ACACTGTGATTGGCAGGGAGCGGCG 75044464 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__72649744_20 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*16,g.2473G>A" A/G Q377 PharmGKB:PA27093 rs72547515 hCV72649744 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GAGGCCTTCATCCTGGAGACCTTCC[A/G]ACACTCCTCCTTCTTGCCCTTCACC 75044552 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__30634246_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*4,g.2499A>T" A/T F386 PharmGKB:PA27093 rs72547516 hCV30634246 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 ACACTCCTCCTTCTTGCCCTTCACC[A/T]TCCCCCACAGGTGAGGCCTGCCGGT 75044578 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__15876602_20 CYP1A2 CP12|P3-450|P450(PA) A/G K403 PharmGKB:PA27093 rs2960193 hCV15876602 Silent Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 CGCTGAATGGCTTCTACATCCCCAA[A/G]AAATGCTGTGTCTTCGTAAACCAGT 75045567 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__30634245_10 CYP1A2 CP12|P3-450|P450(PA) A/G Y406 PharmGKB:PA27093 rs55889066 hCV30634245 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GGCTTCTACATCCCCAAGAAATGCT[A/G]TGTCTTCGTAAACCAGTGGCAGGTC 75045575 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__30634145_10 CYP1A2 CP12|P3-450|P450(PA) A/G PharmGKB:PA27093 rs56107638 hCV30634145 Intron "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 ACCAGTGGCAGGTCAACCATGACCC[A/G]TGAGTACATACCCCTCACGAAAAAA 75045612 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0.01 0 Homo sapiens C__30634244_20 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*6,g.5090C>T" C/T W431 PharmGKB:PA27093 rs28399424 hCV30634244 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GGACCCCTCTGAGTTCCGGCCTGAG[C/T]GGTTCCTCACCGCCGATGGCACTGC 75047169 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C__34816146_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*14,g.5112C>T" C/T I438 PharmGKB:PA27093 rs45486893 hCV34816146 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 GAGCGGTTCCTCACCGCCGATGGCA[C/T]TGCCATTAACAAGCCCTTGAGTGAG 75047191 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0.01 0 Homo sapiens C__72649745_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*8,g.5166G>A" A/G H456 PharmGKB:PA27093 rs72547517 hCV72649745 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 ATGATGCTGTTTGGCATGGGCAAGC[A/G]CCGGTGTATCGGGGAAGTCCTGGCC 75047245 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0.01 0 Homo sapiens C__32400957_10 CYP1A2 CP12|P3-450|P450(PA) A/T H478 PharmGKB:PA27093 rs4646428 hCV32400957 Mis-sense Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 TCTTCCTGGCCATCCTGCTACAGCA[A/T]CTGGAGTTCAGCGTGCCGCCGGGCG 75047312 NCBI Build 37.1 Human "15q24.1b,15q24.1" 15 0 0 0 0 Homo sapiens C___1642455_10 CYP1A2 CP12|P3-450|P450(PA) "CYP1A2*15,g.5347T>C|CYP1A2*16,g.5347T>C|CYP1A2*1B,g.5347T>C|CYP1A2*1G,g.5347T>C|CYP1A2*1H,g.5347T>C|CYP1A2*1L,g.5347T>C|CYP1A2*1N,g.5347T>C|CYP1A2*1P,g.5347T>C|CYP1A2*1R,g.5347T>C|CYP1A2*1S,g.5347T>C|CYP1A2*1T,g.5347T>C|CYP1A2*1U,g.5347T>C|CYP1A2*3,g.5347T>C|CYP1A2*8,g.5347T>C" T/C N516 PharmGKB:PA27093 rs2470890 hCV1642455 Silent Mutation "cytochrome P450, family 1, subfamily A, polypeptide 2" NM_000761 AGGCGCGGCTGCGCTTCTCCATCAA[T/C]TGAAGAAGACACCACCATTCTGAGG 75047426 NCBI Build 37.1 Human "15q24.1,15q24.1b" 15 0.33 0.14 0.24 0.17 Homo sapiens C__25638929_10 CHST6 MCDC1 C/T D369 rs35036798 hCV25638929 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GGCAGCACCAGATCAAGGGCGAGGT[C/T]GCGCTGCTCGTCCTCAGAGTACACA 75512622 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__32342642_10 CHST6 MCDC1 A/C X347 rs72547535 hCV32342642 Nonsense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 AGCTGCAGCGCACCAGCGCACAGTT[A/C]CTGCACGCGGCGGATCTTGGCAAAG 75512688 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__32342641_20 CHST6 MCDC1 A/G X331 rs72547536 hCV32342641 Nonsense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 AAGGGCAGCGCATGGCGCCAGGCCT[A/G]GGAGACGTTGAGCGCATTCCTGGAC 75512736 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__32342640_40 CHST6 MCDC1 A/C X309 rs72547537 hCV32342640 Nonsense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 TCGCGGCGCGCACCAGGTCCAGATC[A/C]GTGGGTGATGTTATGGATCCAGGCC 75512802 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__27528134_10 CHST6 MCDC1 C/T K274 rs72547538 hCV27528134 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GCCAGCGGCTCCCGCGCCAGGTCCT[C/T]GAAGCGCACCAGGCGGTAGCGGCCG 75512907 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__33523902_30 CHST6 MCDC1 C/T C268 rs72547539 hCV33523902 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 CAGGTCCTCGAAGCGCACCAGGCGG[C/T]AGCGGCCGCGCAGAAAGGGTGGCGG 75512924 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__29722346_30 CHST6 MCDC1 G/T P249 rs72547540 hCV29722346 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 TGTGGCGGCCTCGGCGATGCGTACG[G/T]GGCTACGGCACACCTCGCGCACCAC 75512981 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__33523901_50 CHST6 MCDC1 C/T hCV33523901 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GTAGAGCACCTGCAGGTTGAAGAAG[C/T]GCACCTCCTTGAGCACCACGTGGCT 75513197 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__27531001_10 CHST6 MCDC1 C/G P166 rs72547542 hCV27531001 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 CTTGAGCACCACGTGGCTGTAGGAG[C/G]GGCAGGCCTCCCGGGCCAGGGTGAA 75513230 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__26614164_30 CHST6 MCDC1 A/G S136 rs2911475 hCV26614164 Silent Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 TGCTGATGGCGCCTCGGGGAAAGGC[A/G]CTGCAGGCGGGTGGCGAGCACAGTG 75513319 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C___2394439_40 CHST6 MCDC1 C/T P132 rs436153 hCV2394439 Silent Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 CTCGGGGAAAGGCACTGCAGGCGGG[C/T]GGCGAGCACAGTGCACGGCTCACGG 75513331 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__27540424_10 CHST6 MCDC1 A/G V128 rs72547543 hCV27540424 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 ACTGCAGGCGGGTGGCGAGCACAGT[A/G]CACGGCTCACGGCCCACTGGAAGAG 75513344 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__32342624_10 CHST6 MCDC1 C/T C110 rs72547544 hCV32342624 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GGACAGGTTGCGGCGCCAAGGCAGA[C/T]AGGCATCAAACACGTCCATGTCGCA 75513398 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__27859708_10 CHST6 MCDC1 A/G S107 rs72547545 hCV27859708 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GCGGCGCCAAGGCAGATAGGCATCA[A/G]ACACGTCCATGTCGCACAGGAAGAC 75513407 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__29722344_10 CHST6 MCDC1 C/G P97 rs72547546 hCV29722344 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GTCCATGTCGCACAGGAAGACGGAG[C/G]GCACCAGGTCGCGCACAGCCATGTG 75513437 NCBI Build 37.1 Human "16q23.1,16q23.1b" 16 0 0 0 0 Homo sapiens C__32342616_30 CHST6 MCDC1 C/G L66 rs72547547 hCV32342616 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 CACGCGGGCTCCATTAGGTAGAAGA[C/G]GTCGGGGTGCTGGTTGAAGAGTTGG 75513531 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__32342615_30 CHST6 MCDC1 G/T T61 rs72547548 hCV32342615 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 TAGGTAGAAGACGTCGGGGTGCTGG[G/T]TGAAGAGTTGGCCCACGAAGGACGA 75513545 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__27859705_10 CHST6 MCDC1 A/G S31 rs72547549 hCV27859705 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 GCCTCGCCGCCTGCTGGGGACGAGG[A/G]CCCTGGCCGGGAAACCAGAAAGAGG 75513636 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__30587546_10 CHST6 MCDC1 A/C R22 rs68043642 hCV30587546 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 CCCTGGCCGGGAAACCAGAAAGAGG[A/C]GGAGGAAGGTCTGCGCCAGGAGGAG 75513662 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__32342610_10 CHST6 MCDC1 A/G X18 rs72547550 hCV32342610 Nonsense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 NM_021615 ACCAGAAAGAGGAGGAGGAAGGTCT[A/G]CGCCAGGAGGAGCGCGGTCACTGCT 75513675 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__30634139_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318|RP11-151D14.2 A/T Y466 rs1063447 hCV30634139 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member A1" NM_000689 ATTTCCAGACATCTTGAATCCACCA[A/T]AGGGGCACTGGGCACTTACCACGCC 75520910 NCBI Build 37.1 Human "9q21.13a,9q21.13" 9 0 0 0 0 Homo sapiens C__27109546_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318|RP11-151D14.2 G/T D446 rs1803054 hCV27109546 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member A1" NM_000689 TTACCACACTGTTCCTGCCTGCAGA[G/T]CAGAGGAGATTGTTATGGCTTTATC 75524539 NCBI Build 37.1 Human "9q21.13a,9q21.13" 9 0 0 0 0 Homo sapiens C__34338627_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318|RP11-151D14.2 -/C E410K rs5898283 hCV34338627 Frame Shift InDel "aldehyde dehydrogenase 1 family, member A1" NM_000689 ATCACGTCATCTAAAGATTTAAACT[-/C]TCATGATTTGCTGCACTGGTCCAAA 75524648 NCBI Build 37.1 Human "9q21.13a,9q21.13" 9 0 0 0 0 Homo sapiens C__30634140_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318|RP11-151D14.2 A/T F177 rs8187929 hCV30634140 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member A1" NM_000689 CTCAGTGCAGGCCCTATCTTCCAAA[A/T]GAGCATAACCAACGGGAAATTCCAC 75540504 NCBI Build 37.1 Human "9q21.13a,9q21.13" 9 0 0 0.03 0.07 Homo sapiens C___8342436_30 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318|RP11-151D14.2 C/T S121 rs1049981 hCV8342436 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member A1" NM_000689 TGTTTTGATGCAGCCTGCTAAATCA[C/T]TCAGATATGCATTGGAATAGAGTTT 75543888 NCBI Build 37.1 Human "9q21.13,9q21.13a" 9 0 0 0 0 Homo sapiens C___2858283_1_ ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318|RP11-151D14.2 A/G S75 rs13959 hCV2858283 Silent Mutation "aldehyde dehydrogenase 1 family, member A1" NM_000689 CGGAAGCATCCATAGTACGCCACGG[A/G]GATCCAATCTGAAAAGCCTGTCTTG 75545882 NCBI Build 37.1 Human "9q21.13a,9q21.13" 9 0.44 0.31 0.43 0.44 Homo sapiens C__26614029_70 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST C/T E339 rs383400 hCV26614029 Silent Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 CATTCCTAGACGAAGTATGGAAGGC[C/T]TCGATTGGCTTGCCGATCCCCGACC 75563266 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__27496188_50 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST A/G M318 rs3826107 hCV27496188 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 GTGGATCCAGGCCTCGAGCTGTGGC[A/G]TGAGGGTCAGGCCGGTGAAGGCGTA 75563330 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0.22 0.1 0.17 0.27 Homo sapiens C__29183135_10 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST C/T T311 rs7206332 hCV29183135 Mis-sense Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 GGCGTGAGGGTCAGGCCGGTGAAGG[C/T]GTAGAGTGCGCGGATCTCTGCCAGC 75563352 NCBI Build 37.1 Human "16q23.1,16q23.1b" 16 0 0.03 0 0 Homo sapiens C__26614028_20 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST C/T L217 rs394150 hCV26614028 Silent Mutation carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 GGTCGCGCACCAGGTGCACGATGCG[C/T]AGGTTGAGCGCGGGGTCGCTGAGCA 75563632 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C___3190086_20 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST C/T rs3784932 hCV3190086 UTR 5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 GACCCGGGCCCTCATGCCCATCCCA[C/T]GCCCCAATTACTGCCCAGTGCCCTC 75564287 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0.19 0.1 0.17 0.27 Homo sapiens C__26614021_10 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST G/A rs2738792 hCV26614021 UTR 5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 TTAAAGATAAACAAGTAAATAAAGT[G/A]GACAAAGAACAGCAACTGTTGTCAT 75565284 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0.11 0.5 0.21 0.32 Homo sapiens C__26614020_60 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST A/G rs2641806 hCV26614020 UTR 5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 TTGATGGGGAGCTGGGATGGAGCCC[A/G]AGAAGCAGAGAGGTGAGAGCAGAGT 75565420 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0.33 0.27 0.03 0.06 Homo sapiens C__33523838_10 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST -/C hCV33523838 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 GAGTCTCCAGAAGACCAGTTCCTCA[-/C]TGGGAGCTTTCTGATAAGGAGACTT 75567071 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C__34338667_10 ALDH1A1 ALDC|ALDH1|PUMB1|ALDH11|RALDH1|ALDH-E1|MGC2318|RP11-151D14.2 -/T rs8187867 hCV34338667 UTR 5 "aldehyde dehydrogenase 1 family, member A1" NM_000689 AGGATGACATTTCTGATTCGGCTCC[-/T]GGAACACAGGTGACTGGCTCAGCAA 75567932 NCBI Build 37.1 Human "9q21.13a,9q21.13" 9 0 0 0 0 Homo sapiens C__26613982_10 CHST5 FLJ22167|MGC74625|I-GlcNAc-6-ST C/T rs1690505 hCV26613982 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 NM_024533 GGCTGGTCCCGTTGATCACGGATAT[C/T]TGGGACACGGGAGGAGGATGTGGTG 75576582 NCBI Build 37.1 Human "16q23.1b,16q23.1" 16 0 0 0 0 Homo sapiens C___8890129_20 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 A/G P129 PharmGKB:PA33532 rs1135612 hCV8890129 Silent Mutation P450 (cytochrome) oxidoreductase NM_000941 TGCAGGCCGACCTGAGCAGCCTGCC[A/G]GAGATCGACAACGCCCTGGTGGTTT 75609677 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0.27 0.11 0.4 0.42 Homo sapiens C__34423927_10 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 G/T D181 PharmGKB:PA33532 rs72552771 hCV34423927 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 GGTGTTTGGTCTTGGGAACAAGACC[G/T]ACGAGCACTTCAATGCCATGGGCAA 75610390 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0 0 0 0 Homo sapiens C__34423930_10 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 A/G H457 PharmGKB:PA33532 rs28931608 hCV34423930 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 GAGCTGCTGCCGCGCCTGCAGGCCC[A/G]CTACTACTCCATCGCCTCATCCTCC 75614497 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0 0 0 0 Homo sapiens C___8890131_30 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 C/T V503 PharmGKB:PA33532 rs1057868 hCV8890131 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 AACTGGCTGCGGGCCAAGGAGCCTG[C/T]CGGGGAGAACGGCGGCCGTGCGCTG 75615006 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0.21 0.26 0.47 0.32 Homo sapiens C__34423931_10 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 A/G Y569 PharmGKB:PA33532 rs28931607 hCV34423931 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 GGGGAGACGCTGCTGTACTACGGCT[A/G]CCGCCGCTCGGATGAGGACTACCTG 75615277 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0 0 0 0 Homo sapiens C___1218665_20 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 A/G S572 PharmGKB:PA33532 rs1057870 hCV1218665 Silent Mutation P450 (cytochrome) oxidoreductase NM_000941 TGCTGTACTACGGCTGCCGCCGCTC[A/G]GATGAGGACTACCTGTACCGGGAGG 75615287 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0.41 0.19 0.03 0.02 Homo sapiens C__32392574_10 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 G/T F608 PharmGKB:PA33532 rs72552772 hCV32392574 Mis-sense Mutation P450 (cytochrome) oxidoreductase NM_000941 GCACCACCCTTGGCCCCAGGTCTAC[G/T]TCCAGCACCTGCTAAAGCAAGACCG 75615483 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0 0 0 0 Homo sapiens C___8890132_10 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 C/T PharmGKB:PA33532 rs13921 hCV8890132 UTR 3 P450 (cytochrome) oxidoreductase NM_000941 CACCGGGCTCCATGCCTCTGGAGGC[C/T]TCTGGCCCTCGGTGGCTGCACAGAA 75616039 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0 0 0 0 Homo sapiens C___8890133_30 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 A/G PharmGKB:PA33532 rs17685 hCV8890133 UTR 3 P450 (cytochrome) oxidoreductase NM_000941 GCTGAGCTGGGCCCAGCCCCTCCAC[A/G]TGATTTCCAGTGAGTGTAAATAATT 75616105 NCBI Build 37.1 Human "7q11.23e,7q11.23" 7 0.21 0.26 0.42 0.31 Homo sapiens C__16180738_30 POR CPR|CYPOR|P450R|FLJ26468|DKFZp686G04235 A/G PharmGKB:PA33532 rs2286824 hCV16180738 UTR 3 P450 (cytochrome) oxidoreductase NM_000941 CCCTTGGAATAAAGTTCTGTTTTCT[A/G]TATTTGCCTGGTATTGTGTGAGTAG 75616171 NCBI Build 37.1 Human "7q11.23,7q11.23e" 7 0 0 0.04 0.06 Homo sapiens C__25934508_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G K109 PharmGKB:PA72 rs61747968 hCV25934508 Silent Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 ACCATATCCAAAGCACATTGCTGAA[A/G]ACCAAGGGTGTGACAGACATTAAAA 77243944 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__25937636_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/G V142 PharmGKB:PA72 rs61743418 hCV25937636 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 AGTGAATGCCAATCAGATAAAAGAG[C/G]TGGTTCCAGAACTCAGTTTAGATAC 77244041 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__27528697_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X167 PharmGKB:PA72 rs72554635 hCV27528697 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 AGCTTGTGAAGATCATAGTATGGCT[C/T]AAGCTGGTGAAGTCGTGCTGAAGAT 77244116 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C______9342_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X409 PharmGKB:PA72 rs72554636 hCV9342 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 AAAAAAGCCAGGTGTAAAATCCATA[C/T]GAGTCTCCCTTGCAAATAGCAATGG 77245343 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__12118538_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T L464 PharmGKB:PA72 rs2234934 hCV12118538 Silent Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TCAGCCTTCATCGGAAATGCCGCTT[C/T]TGACTTCAACTAATGAATTTTATAC 77254028 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__27540458_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 G/T X529 PharmGKB:PA72 rs72554637 hCV27540458 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TGTGGCCCTGATGGCTGGCAAGGCA[G/T]AAGTAAGGTATAATCCTGCTGTTAT 77258611 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242993_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/C X578 PharmGKB:PA72 rs72554638 hCV2242993 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TGAGGGGAATGACGTGTGCCTCCTG[A/C]GTACATAAAATAGAGTCTAGTCTCA 77264625 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__25938981_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G C608 PharmGKB:PA72 rs61742278 hCV25938981 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GCAACCAACAAAGCACATATTAAAT[A/G]TGACCCAGAAATTATTGGTCCTAGA 77264714 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242992_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/G P629 PharmGKB:PA72 rs72554639 hCV2242992 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 ATTTCCTTAGAGCTTAGGTTTTGAA[C/G]CTTCTTTGGTCAAGAAGGATCGGTC 77266688 NCBI Build 37.1 Human "Xq21.1,Xq21.1a" X 0 0 0 0 Homo sapiens C___2242991_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/G PharmGKB:PA72 hCV2242991 "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GCTTCTTTGGTCAAGAAGGATCGGT[C/G]AGCAAGTCACTTAGATCATAAACGA 77266713 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242990_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X645 PharmGKB:PA72 rs72554640 hCV2242990 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GTCAGCAAGTCACTTAGATCATAAA[C/T]GAGAAATAAGACAGTAAGTACTTTG 77266736 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__12118536_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T T669 PharmGKB:PA72 rs2234935 hCV12118536 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TGTATTCCTGTAATGGGGCTGATGA[C/T]ATATATGATGGTTATGGACCACCAC 77267005 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0.02 Homo sapiens C___2242989_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 G/T X690 PharmGKB:PA72 rs72554641 hCV2242989 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TCACCATAATCAAAACATGAGTAAA[G/T]AAGAAATGATCAACCTTCATTCTTC 77267067 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__12118535_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G H703 PharmGKB:PA72 rs2234936 hCV12118535 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 CTTCATTCTTCTATGTTCCTGGAGC[A/G]CCAGATTCTTCCAGGATTGTCTGTT 77267107 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__27536224_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 G/T R706 PharmGKB:PA72 rs72554642 hCV27536224 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TCTATGTTCCTGGAGCGCCAGATTC[G/T]TCCAGGATTGTCTGTTATGAATTTG 77267116 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__12118549_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/T X718 PharmGKB:PA72 rs72554643 hCV12118549 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TCTGTTATGAATTTGCTGTCCTTTT[A/T]ATTGTGTGTACCTGTACAGGCAAGT 77267152 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C_____17312_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G R727 PharmGKB:PA72 rs72554644 hCV17312 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TATCATTCCTATATTGCAGTTTTTC[A/G]GAGGCTGGTACTTCTACATTCAGGC 77268382 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__12118534_30 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/G L767 PharmGKB:PA72 rs2227291 hCV12118534 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TGCCTACTCTTTGATTATTCTTCTA[C/G]TTGCAATGTATGAGAGAGCCAAAGT 77268502 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0.13 0.26 0.29 0.3 Homo sapiens C__33101242_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X795 PharmGKB:PA72 rs72554645 hCV33101242 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GCTGTTTGTGTTTATTGCACTAGGC[C/T]GATGGCTGGAACATATAGCAAAGGT 77268586 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__25937686_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G V869 PharmGKB:PA72 rs61053012 hCV25937686 Silent Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GTGTTATTGAAGGACATTCTATGGT[A/G]GATGAGTCCCTCATCACAGGTATGT 77271359 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0.01 0 0 Homo sapiens C__27861190_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 G/T R873 PharmGKB:PA72 rs72554646 hCV27861190 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GGACATTCTATGGTAGATGAGTCCC[G/T]CATCACAGGTATGTTCTTTCAAAGG 77271370 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242986_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X896 PharmGKB:PA72 rs72554647 hCV2242986 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 CACAGTGATTGCTGGTTCCATTAAC[C/T]AGAACGGGTCACTGCTTATCTGCGC 77275800 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242985_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X924 PharmGKB:PA72 rs72554648 hCV2242985 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 AATTGTCAAACTTGTGGAAGAGGCA[C/T]AAACATCAAAGGTAACTTAACTCCC 77275884 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242984_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G X956 PharmGKB:PA72 rs67273048 hCV2242984 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GTTTCCATTGCCACCCTCTTGGTAT[A/G]GATTGTAATTGGATTTCTGAATTTT 77276527 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__12118545_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X980 PharmGKB:PA72 rs72554649 hCV12118545 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 AAAGGGCTACAATAGAAGTATCTCC[C/T]GAACAGAAACGATAATACGATTTGC 77284768 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__12118544_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X986 PharmGKB:PA72 rs72554650 hCV12118544 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TATCTCCCGAACAGAAACGATAATA[C/T]GATTTGCTTTCCAAGCCTCTATCAC 77284786 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242983_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T P1006 PharmGKB:PA72 rs72554651 hCV2242983 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 ATTGCATGTCCCTGTTCACTGGGAC[C/T]GGCCACTCCAACTGCTGTGATGGTG 77284847 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242982_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G D1019 PharmGKB:PA72 rs72554652 hCV2242982 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GCTGTGATGGTGGGTACAGGAGTAG[A/G]TGCTCAAAATGGCATACTAATAAAA 77284886 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C___2242981_20 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 G/T X1081 PharmGKB:PA72 rs72554653 hCV2242981 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 AATCTTGGCCATTGTGGGAACTGCT[G/T]AAAGTAACAGTGAACACCCTCTAGG 77287027 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__27536225_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G D1118 PharmGKB:PA72 rs72554654 hCV27536225 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GATTTCCAGGTTGTGCCAGGCTGTG[A/G]TATTAGCTGTAAAGTCACCAATATT 77289161 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__33101219_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G R1255 PharmGKB:PA72 rs72554655 hCV33101219 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GGGCTTAGAAGTAGTTCTGATGACT[A/G]GAGACAACAGTAAAACAGCTAGATC 77296193 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__27859520_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/T X1288 PharmGKB:PA72 rs72554656 hCV27859520 Nonsense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 TTCTCACAAGGTTGCTAAAGTGAAG[C/T]AACTTCAAGAGGAGGGGAAACGGGT 77298143 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__27531351_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 A/G R1302 PharmGKB:PA72 rs72554657 hCV27531351 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 GAAACGGGTAGCAATGGTGGGAGAT[A/G]GAATCAATGACTCCCCAGCTCTGGC 77298185 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0 0 0 Homo sapiens C__30043896_10 ATP7A MK|MNK|DSMAX|SMAX3|FLJ17790|RP3-465G10.1 C/G L1401 PharmGKB:PA72 rs5959130 hCV30043896 Mis-sense Mutation "ATPase, Cu++ transporting, alpha polypeptide" NM_000052 AATGGCTGCTTCATCTGTTTCTGTA[C/G]TACTTTCTTCTCTCTTCCTTAAACT 77301044 NCBI Build 37.1 Human "Xq21.1a,Xq21.1" X 0 0.04 0 0 Homo sapiens C__30634071_10 SLC28A1 CNT1|HCNT1 C/T L42|L42 PharmGKB:PA387 rs17222302 hCV30634071 Silent Mutation|Silent Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 GGAAGGCCAGCTCCCTAGGAGTGAC[C/T]TGAGCCCCGCAGAGATCAGGAGCAG 85432030 NCBI Build 37.1 Human "15q25.3,15q25.3a" 15 0.01 0.01 0.01 0 Homo sapiens C__15884802_30 SLC28A1 CNT1|HCNT1 C/G G130|G130 PharmGKB:PA387 rs2277577 hCV15884802 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CTTCCTGGGCCACCGCCTGCTGAAA[C/G]GGCTTCTGGGGCCAAAGCTGAGGAG 85438281 NCBI Build 37.1 Human "15q25.3,15q25.3a" 15 0 0 0 0 Homo sapiens C__15884812_20 SLC28A1 CNT1|HCNT1 A/T | PharmGKB:PA387 rs2277575 hCV15884812 Intron|Intron "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CCGCCTGCTGCTCTGGTTTAAGAGG[A/T]GAGTGAGCTCACAGCCCCGAGGCAG 85438356 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__30633997_10 SLC28A1 CNT1|HCNT1 A/T G210| PharmGKB:PA387 rs8187755 hCV30633997 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 TGTCCTGGAGGGCCGTGTCTTGGGG[A/T]CTTGGACTGCAGTTTGTACTTGGAC 85448796 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0.11 0 0 Homo sapiens C__30633998_10 SLC28A1 CNT1|HCNT1 C/T V230| PharmGKB:PA387 rs17215934 hCV30633998 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 ATCAGAACAGAACCAGGATTCATTG[C/T]GTTCGAGTGGCTGGGCGAGCAGATC 85448855 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0.02 Homo sapiens C__25971678_30 SLC28A1 CNT1|HCNT1 A/C K237| PharmGKB:PA387 rs8187758 hCV25971678 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CATTGCGTTCGAGTGGCTGGGCGAG[A/C]AGATCCGGGTAGGTATGTGGGGTCT 85448875 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0.18 0.15 0.28 0.25 Homo sapiens C__30633989_10 SLC28A1 CNT1|HCNT1 A/G I279| PharmGKB:PA387 rs17215975 hCV30633989 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 TGTCTTTTTCAGCTGTGTCATATCC[A/G]TTCTCTACCACGTGGGCCTCATGCA 85461794 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0.01 0 0 Homo sapiens C__30633990_10 SLC28A1 CNT1|HCNT1 A/G P323| PharmGKB:PA387 rs17222274 hCV30633990 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 TTTCCTGTTTGCAGACCGAGGCTCC[A/G]TTACTGATCCGGCCCTACTTGGCAG 85467227 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__25958386_20 SLC28A1 CNT1|HCNT1 C/T H339| PharmGKB:PA387 rs3803390 hCV25958386 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CAGACATGACACTCTCTGAAGTCCA[C/T]GTTGTCATGACCGGAGGTTACGCCA 85467275 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0.07 0.05 0.47 0.42 Homo sapiens C__25998303_20 SLC28A1 CNT1|HCNT1 A/G S366| PharmGKB:PA387 rs17222379 hCV25998303 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CACTCTTGCAGATCGATGCCACCTC[A/G]TTGATTGCAGCCTCTGTGATGGCTG 85476390 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0.01 0 0 Homo sapiens C__30633991_10 SLC28A1 CNT1|HCNT1 A/C G399| PharmGKB:PA387 rs8042415 hCV30633991 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 AGTCCAAGTTTAGGAGGGAGGAAGG[A/C]GTGAAACTGACCTATGGGTGAGCAC 85476489 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__25967663_30 SLC28A1 CNT1|HCNT1 C/G Q412| PharmGKB:PA387 rs17222386 hCV25967663 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CAACAGAGATGCTCAGAACCTCATA[C/G]AAGCAGCCAGCACTGGGGCCGCCAT 85478276 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__25968299_20 SLC28A1 CNT1|HCNT1 C/G V449| PharmGKB:PA387 rs72547518 hCV25968299 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CTTTATCAATGCTGCCCTCTCCTGG[C/G]TGGGAGACATGGTGGACATCCAAGG 85478387 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C___1342427_30 SLC28A1 CNT1|HCNT1 A/G Q456| PharmGKB:PA387 rs2242048 hCV1342427 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 GGCTGGGAGACATGGTGGACATCCA[A/G]GGGCTCAGCTTCCAGGTGCGTTTCT 85478410 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0.19 0.04 0.06 0.01 Homo sapiens C__25964880_20 SLC28A1 CNT1|HCNT1 A/C R469| PharmGKB:PA387 rs8187779 hCV25964880 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 TCAGCTCATCTGCTCCTACATCCTG[A/C]GGCCTGTAGCCTTCTTGATGGGTGT 85478573 NCBI Build 37.1 Human "15q25.3,15q25.3a" 15 0 0.03 0 0 Homo sapiens C__16173386_30 SLC28A1 CNT1|HCNT1 C/T C510| PharmGKB:PA387 rs2242047 hCV16173386 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 TCAAGACCTCTCCAAGTACAAGCAA[C/T]GCCGCCTGGCAGGGGCCGAGGAGTG 85478696 NCBI Build 37.1 Human "15q25.3,15q25.3a" 15 0 0 0.3 0.42 Homo sapiens C___1342428_40 SLC28A1 CNT1|HCNT1 A/G N521| PharmGKB:PA387 rs2242046 hCV1342428 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 GGCAGGGGCCGAGGAGTGGGTCGGC[A/G]ACAGGAAGCAGTGGATCTCCGTGAG 85478729 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0.49 0.11 0.12 0.02 Homo sapiens C__30633992_10 SLC28A1 CNT1|HCNT1 C/T P546| PharmGKB:PA387 rs45584739 hCV30633992 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CCTCTGTGGATTTGCCAATTTCAGC[C/T]CCATTGGGATCATGCTGGGAGGCTT 85486730 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__30633993_10 SLC28A1 CNT1|HCNT1 C/T T607| PharmGKB:PA387 rs17222267 hCV30633993 Silent Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 ACTGCATGTCCCTCTTGAACACGAC[C/T]CTCAGCAGCAGTAGCTTTGAGATTT 85488045 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__30633994_10 SLC28A1 CNT1|HCNT1 A/G S627| PharmGKB:PA387 rs72547519 hCV30633994 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 GATCTTTGCTTTCTTTTTAGCGTCA[A/G]TCCAGAGTTCAGCCCAGAGGCCCTG 85488361 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__30633995_10 SLC28A1 CNT1|HCNT1 C/G V635| PharmGKB:PA387 rs17222421 hCV30633995 Mis-sense Mutation| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 CAATCCAGAGTTCAGCCCAGAGGCC[C/G]TGGACAACTGCTGTCGGTTTTACAA 85488384 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__30633996_10 SLC28A1 CNT1|HCNT1 C/T | PharmGKB:PA387 rs17222428 hCV30633996 UTR 3| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 AGGACAGAACATGCTTGTGCTTCTG[C/T]GCTTCTGAGGGCTGTTCTCCCCCGG 85488456 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0 0 0 0 Homo sapiens C__29230345_10 SLC28A1 CNT1|HCNT1 G/T | PharmGKB:PA387 rs8025045 hCV29230345 UTR 3| "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" NM_004213|NM_201651 AGCTCAATCCCACAATTGGGAAGGG[G/T]TCATGGAGTGAGTGTGCAGAGAGTG 85488572 NCBI Build 37.1 Human "15q25.3a,15q25.3" 15 0.19 0.13 0.07 0.01 Homo sapiens C__31366013_10 SLC28A3 CNT3 A/G | PharmGKB:PA426 rs11568392 hCV31366013 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 CGATATTGGCAAAACCACAGAGAGC[A/G]TAAGTGGCGATTATCTCAGAACGAA 86895771 NCBI Build 37.1 Human "9q21.32c,9q21.32" 9 0 0 0.02 0.03 Homo sapiens C__31366021_10 SLC28A3 CNT3 A/G | PharmGKB:PA426 rs11140494 hCV31366021 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 TCCTCAAGTGGATCCATTTTGAGAG[A/G]TGCTCATAAGCCACAAATTCATTGA 86900332 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0.02 0 0 Homo sapiens C__25954718_20 SLC28A3 CNT3 A/T | PharmGKB:PA426 rs56350726 hCV25954718 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 CACAAATTCATTGAAGAAGGTCTTA[A/T]AACCTATGAGTCTGGCAACCATAAA 86900369 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0.05 0.13 0.07 0.13 Homo sapiens C___1820227_30 SLC28A3 CNT3 A/G | PharmGKB:PA426 rs7853758 hCV1820227 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 GACAGGGCTGAATTCATAAAAGACA[A/G]CAGGGCCAGGAAGGCAATCAGATTC 86900926 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0.14 0.27 0.11 0.23 Homo sapiens C__31366029_10 SLC28A3 CNT3 G/T | PharmGKB:PA426 rs11568405 hCV31366029 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 CTTTCCATTTTCATGGCATTCTTGA[G/T]GGTTATTTTAGGTTTTTCTGTCTCA 86902991 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0 0 0 Homo sapiens C__25954367_20 SLC28A3 CNT3 A/G | PharmGKB:PA426 rs7043492 hCV25954367 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 CAAAAGAAATGTATGCACCTAGCAC[A/G]CTTCCAGCAATGGTAGAGAACCCGG 86905096 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0.03 0 0 Homo sapiens C__31366037_10 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs11568388 hCV31366037 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 ACGCTTCCAGCAATGGTAGAGAACC[C/T]GGCGGTCATGATGGCGTGGAGTTCA 86905119 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0 0 0 Homo sapiens C__31366038_10 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs45525131 hCV31366038 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 CTTGGTGATGTAAGGTAAATATGGT[C/T]GGACCAGCAGTGGAGACTCCGTCTG 86905172 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0 0 0 Homo sapiens C__31366048_20 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs11568418 hCV31366048 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 TTGCCAGAAGCAACTACAGATTCAA[C/T]AGGAGATGATCCCGTAGTAACTAGC 86907624 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0.03 0 0 Homo sapiens C__31366051_10 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs11568391 hCV31366051 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 TCACAGTGCTGAAGAAAACCACGAT[C/T]GGCAGGACCTGTGGGGACAGAAACA 86909182 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0 0.01 0 Homo sapiens C__31366067_10 SLC28A3 CNT3 G/T | PharmGKB:PA426 rs11140503 hCV31366067 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 GATCAACTGGATACTTACTCTGGTT[G/T]GGTACTTGGAAAATAGAAATAACAG 86914503 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0 0 0.01 Homo sapiens C__25954882_20 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs10868138 hCV25954882 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 ACAGGCCGAAATCACCATAACCAGA[C/T]AACCTGTCCAGGAAGCAAAAACAGA 86917301 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0.06 0.18 0.07 0.09 Homo sapiens C__11764222_20 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs7867504 hCV11764222 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 TGTGTTTCCTACAGAAACCACATAC[C/T]GTGTCATACCTCCTTTCCAAACACC 86920236 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0.32 0.28 0.48 0.34 Homo sapiens C__31366086_10 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs11568411 hCV31366086 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 CTCATCATCATCCTCCATGTGTTCT[C/T]TGTTTCTTGGAGAATCCTGCTCAAC 86924586 NCBI Build 37.1 Human "9q21.33,9q21.33a" 9 0 0 0 0 Homo sapiens C__31366087_10 SLC28A3 CNT3 C/G | PharmGKB:PA426 rs45621433 hCV31366087 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 ATGTGTTCTCTGTTTCTTGGAGAAT[C/G]CTGCTCAACTGTGACCTGTTCTTCA 86924602 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0 0 0 0 Homo sapiens C__31366093_10 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs11568421 hCV31366093 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 CTCTGCTTCTTATTGAGTTGTTTCC[C/T]GATGTGTTCTCGTTCTCAAGAAAGT 86928334 NCBI Build 37.1 Human "9q21.33,9q21.33a" 9 0 0.01 0 0 Homo sapiens C__25954789_20 SLC28A3 CNT3 C/T | PharmGKB:PA426 rs11568403 hCV25954789 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 GCCCTCAGCTCTGGGGGCTGCTGTA[C/T]TCCTCAGCTCCATGCTCTTTTTGCT 86955535 NCBI Build 37.1 Human "9q21.33a,9q21.33" 9 0.01 0.04 0 0 Homo sapiens C__31366214_30 SLC28A3 CNT3 G/T | PharmGKB:PA426 rs10868153 hCV31366214 | "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" NM_001199633|NM_022127 TTTTCCCCCACACTGATACAGTACC[G/T]GGGTATCGCTGCTGGTTGTTCAGGT 86983368 NCBI Build 37.1 Human "9q21.33,9q21.33a" 9 0.02 0.44 0.06 0.09 Homo sapiens C___2294239_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T T1100|T1107|T1053 PharmGKB:PA268 rs31655 hCV2294239 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 AGCCACTGGACATTGAGTTTCTTTG[C/T]TTCTTGACCATCGAGAAGCTGAAAA 87035792 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__30634046_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G N1048|N1048|N1001 PharmGKB:PA268 rs8187807 hCV30634046 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GGCTCAGCCCCTGAAGCACTGGCAC[A/G]TTTGCTCGGGTGGGATAGTTGAACA 87037488 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0.01 0 Homo sapiens C__30634045_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G N1037|N1037|N990 PharmGKB:PA268 rs8187808 hCV30634045 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GGGTGGGATAGTTGAACACGACTTC[A/G]TTAAATGTTATATTTCCTTCAAATT 87037521 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__30634044_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T A984|A984|A937 PharmGKB:PA268 rs45574932 hCV30634044 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 ATGAACTGGCATGTCCTAGAGCCAC[C/T]GCACCAAATACAATTGCAGAAAACA 87038681 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__25648886_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T T934|T934| PharmGKB:PA268 rs61730509 hCV25648886 Mis-sense Mutation|Mis-sense Mutation|Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CTAAAAGTAATTCCATAGATGTGTG[C/T]CTTCTGCACAGAATTCCTGAAAAGC 87041333 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__27497656_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/C G853|G853|G853 PharmGKB:PA268 rs3761810 hCV27497656 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CTAATAGCAATAGGGTTAACTGCCA[A/C]CCGTAGATAAATGATATGATAATAC 87046751 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__30634043_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T Q788|Q788|Q788 PharmGKB:PA268 rs8187801 hCV30634043 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 TAGCATTGCTTTAAAAGCCATTGAC[C/T]GCAGTCTTCTGGTGAGGATCTCGCC 87049345 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.09 0 0 Homo sapiens C__30634042_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G T775|T775|T775 PharmGKB:PA268 rs8187802 hCV30634042 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 TGAGGATCTCGCCAGCTTTCCCAAA[C/G]GTGAAACCCTGGTTGAGAAAAAAGG 87049383 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.02 0 0 Homo sapiens C__29275960_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G S711|S711|S711 PharmGKB:PA268 rs72552773 hCV29275960 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 AATGGCACATACTGTTCCCACGACA[A/G]AGTAGGGCCATTCTGTTTTATTCAG 87053301 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__33985762_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T X658|X658|X658 PharmGKB:PA268 rs72552774 hCV33985762 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 AGAATGCCTAAATAGGCGAGATTTC[C/T]AGCCATTTGGGGCCATTCTAGTGGC 87056157 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0 0 0 0 Homo sapiens C__25472183_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || PharmGKB:PA268 rs2230028 hCV25472183 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GATTTCCAGCCATTTGGGGCCATTC[C/T]AGTGGCAGCCTTTTCATCATTTAGT 87056176 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.08 0.37 0.02 0.06 Homo sapiens C__32371158_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G X636|X636|X636 PharmGKB:PA268 rs72552775 hCV32371158 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 AGTTCAAATTCTTCTGACTGGATCT[A/G]GCTTCCTGATGTCTGAAAGAATATC 87056224 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__33985755_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/T Q591|Q591|Q591 PharmGKB:PA268 rs72552776 hCV33985755 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GACATCTGCATTTCGGACCGTAGAC[A/T]GTCGGTGTGCTATCACAATGGTGGT 87060841 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__33985744_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/T F541|F541|F541 PharmGKB:PA268 rs66904256 hCV33985744 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CGAACCAGGGCACGTGCAATGGCGA[A/T]CCTCTGCTTCTGCCCACCACTCAGC 87069093 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__30634040_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G D528|D528|D528 PharmGKB:PA268 rs8187797 hCV30634040 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GCCCACCACTCAGCTGGGCCCCTCT[C/G]TCTCCAACCAGGGTGTCAAATTTCT 87069130 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.07 0 0 Homo sapiens C__30634039_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T T438|T438|T438 PharmGKB:PA268 rs45624933 hCV30634039 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CATAGAGCCTCTGTATCAGCTGGAC[C/T]GTTGTGCTCTTCCCACAGCCACTAC 87072677 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0 0 0 0 Homo sapiens C__29275952_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T G395|G395|G395 PharmGKB:PA268 rs72552777 hCV29275952 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GTAAGAAAAGTGAACATCATTGAAC[C/T]CCAAATTCCCTTTGATGCTGTCTGG 87073025 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__33986758_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/C I346|I346|I346 PharmGKB:PA268 rs67876345 hCV33986758 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 AATACATGGGGCAGCCTGGCCAACA[A/C]TGAAAGCTCCAATTAGGATTGAAAA 87074260 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__27540552_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G F320|F320|F320 PharmGKB:PA268 rs72552778 hCV27540552 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 ATATTCTTTTGATATGACTAGAGTG[A/G]ATCCATACCAGAAGGCCAGTGCATA 87076396 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0 0 0 0 Homo sapiens C__33986754_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G T301|T301|T301 PharmGKB:PA268 rs72552779 hCV33986754 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 ATATATTAACAGGAAGGCAATACCC[A/G]TGGAAATGTTTGCTGAAATAGCTTT 87076453 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C___1843468_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/T I237|I237|I237 PharmGKB:PA268 rs2109505 hCV1843468 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GTTCTTTGTCACTAAATGCCGAGAG[A/T]ATCTGGACAGAAAAGAAACAGTGAT 87079406 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.21 0.3 0.27 0.28 Homo sapiens C__30634057_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs8187791 hCV30634057 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 AGCTTTCACATACCTTTGCCCAAAC[A/G]GCTGCAGAGAGTCCTAGAATAGGGC 87080951 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0.01 Homo sapiens C__27860861_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T A175|A175|A175 PharmGKB:PA268 rs58238559 hCV27860861 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CAATGTACCTACTCTGTTAGCCGCG[C/T]ATTGAGTTCAGTGGTGTCGTTGATG 87082273 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0.01 Homo sapiens C___8317490_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs1202283 hCV8317490 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GCCGCGTATTGAGTTCAGTGGTGTC[A/G]TTGATGTCAAACCATCCTATTTCCT 87082292 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.47 0.11 0.37 0.38 Homo sapiens C__15851825_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs2230027 hCV15851825 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 TTTCCTGTCGTAGAATAGCATGAAA[A/G]AACTTCTGCCTAATTTTCCTGATCT 87082337 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.05 0 0 Homo sapiens C__29276095_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G X144|X144|X144 PharmGKB:PA268 rs72552780 hCV29276095 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 TTCTGCCTAATTTTCCTGATCTGTC[A/G]ACCAGCTGCCAAAGTCCAAAATGAA 87082366 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__32371203_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G R138|R138|R138 PharmGKB:PA268 rs72552781 hCV32371203 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 ATCTGTCGACCAGCTGCCAAAGTCC[A/G]AAATGAAACTTGTATATAGGCAGCA 87082384 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__30634056_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T E80|E80|E80 PharmGKB:PA268 rs8187787 hCV30634056 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CAGTATCAACAAATTTGTCAGTCAT[C/T]TCTCCAAATACTATCATCATGAGGG 87092120 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__30634055_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G V73|V73|V73 PharmGKB:PA268 rs8187788 hCV30634055 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 ATCTCTCCAAATACTATCATCATGA[C/G]GGGGAGACCTGATCCGTGAGCTATG 87092143 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C___1843476_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs2302387 hCV1843476 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 TGAGCTATGGCCATGATGGTACCCA[A/G]CGACATAAACAATTTATCCTGCCAA 87092185 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.15 0.47 0.2 0.18 Homo sapiens C__25648896_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs8187789 hCV25648896 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 ACATAAACAATTTATCCTGCCAATC[A/G]GAGTATCGAAACTAAAAAAAGGAAA 87092213 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.07 0 0 Homo sapiens C__30634054_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs8187785 hCV30634054 Intron|Intron|Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CCGCCTCAAGATCCATCTCAGCCTG[A/G]GGAGAAACCACAGCCTCAGAACCAA 87104791 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0 0.04 0 0 Homo sapiens C__33986723_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 -/C || PharmGKB:PA268 rs72552782 hCV33986723 UTR 5|UTR 5|UTR 5 "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GAACCTCGCGCGTGTCTGGCAGGGC[-/C]TCTGGACGCGCGGGCGCTGCAGCAG 87104978 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__15861355_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || PharmGKB:PA268 rs2071645 hCV15861355 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GGTCGCAGGATAAGACCGAGATCAG[C/G]CTGGAGCCTCGGGTGCCGAGAAAGC 87105276 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0.19 0.42 0.24 0.27 Homo sapiens C__30634053_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/T || PharmGKB:PA268 rs4148808 hCV30634053 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 ACTGCTCTCATCTAAGACTTCTGTC[C/T]GTATTGAATTGTCTCTGCTCCTACC 87105795 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.15 0.31 0.23 0.26 Homo sapiens C__30634052_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 G/A || PharmGKB:PA268 rs4148807 hCV30634052 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CTTCTGTCTGTATTGAATTGTCTCT[G/A]CTCCTACCACCTATTTGAGTATGAC 87105812 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0.15 0.3 0.24 0.27 Homo sapiens C__30634051_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs4148806 hCV30634051 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 TTCTCAGAGAACCTTAAAGCAGAGC[A/G]TGGTATAAGTAGAGATGCTGGGTGG 87106265 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0.05 0 Homo sapiens C__30634050_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs4148805 hCV30634050 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 TATGTAATTCTTGACTCAGTCATTG[A/G]ATCTATAAAATAAGGGTGTTATTAG 87106365 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.16 0.29 0.22 0.27 Homo sapiens C___1253768_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 G/T || PharmGKB:PA268 rs11979496 hCV1253768 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 CATATCAGTCTACCATGACCATGAG[G/T]ATTCTCTTCTTAAATCAACCCAAAT 87106680 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.15 0 0 Homo sapiens C___1253769_20 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 A/G || PharmGKB:PA268 rs3747806 hCV1253769 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GAGGATTCTCTTCTTAAATCAACCC[A/G]AATTCCTTCCCTTCACTGGTCTAAC 87106702 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.04 0.22 0 0 Homo sapiens C__11711731_30 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 C/G || PharmGKB:PA268 rs1922239 hCV11711731 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 GAAAGAAGGCTTGTGGTGACTGGAG[C/G]ACATTATTAAACTCATTAGCACATA 87106814 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__33986719_10 ABCB4 GBD1|MDR2|MDR3|PGY3|ABC21|MDR2/3|PFIC-3 -/C || PharmGKB:PA268 hCV33986719 || "ATP-binding cassette, sub-family B (MDR/TAP), member 4" NM_000443|NM_018849|NM_018850 AAACCTCTCTTGACCACACTTCCCC[-/C]TGCCAGCTACCATCATATTTCCCTC 87108891 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__11711730_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs3842 hCV11711730 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" AAAATTTATAATGCAGTTTAAACTA[C/T]GATTTCTCTCCACTTGATGATGTCT 87133366 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.16 0.12 0.29 0.28 Homo sapiens C__11711729_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/T PharmGKB:PA267 rs17064 hCV11711729 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GAAATGTTAAACAGATACCTCTTCA[A/T]AATTCTGTAAGTGTTTGCTTTTAAC 87133470 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.08 0.1 0 0 Homo sapiens C__26907818_40 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/G PharmGKB:PA267 rs2235051 hCV26907818 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GATGCGTGCCATGCTCCTTGACTCT[C/G]CCATTCTGAAACACCACTATTAAGT 87133655 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0 0 0 0 Homo sapiens C___7586657_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/G PharmGKB:PA267 rs1045642 hCV7586657 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" TGTTGGCCTCCTTTGCTGCCCTCAC[A/G]ATCTCTTCCTGTGACACCACCCGGC 87138645 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.41 0.2 0.48 0.4 Homo sapiens C__16172088_30 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/T PharmGKB:PA267 rs2229107 hCV16172088 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GCTGCCCTCACAATCTCTTCCTGTG[A/T]CACCACCCGGCTGTTGTCTCCATAG 87138659 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.14 0 0 Homo sapiens C__15951399_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2235044 hCV15951399 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CAAACAGTTGAAACATCAAACTCAC[C/T]GGCATTAGGCCTTCCGTGCTGTAGC 87145825 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C_11711720D_40 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2032582 hCV11711720 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" TATTTAGTTTGACTCACCTTCCCAG[C/T]ACCTTCTAGTTCTTTCTTATCTTTC 87160618 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.44 0.08 0.12 0.36 Homo sapiens C_11711720C_30 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/A PharmGKB:PA267 rs2032582 hCV11711720 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" TATTTAGTTTGACTCACCTTCCCAG[C/A]ACCTTCTAGTTCTTTCTTATCTTTC 87160618 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.44 0.08 0.12 0.36 Homo sapiens C__25598038_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/G PharmGKB:PA267 rs9282563 hCV25598038 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CCTTCTAGTTCTTTCTTATCTTTCA[A/G]TGCTTGTCCAGACAACATTTTCATT 87160645 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.01 0 0 0 Homo sapiens C__11711719_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2032581 hCV11711719 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GTAATTACAGCAAGCCTGGAACCTA[C/T]AGCCTGCAAAACAAAACAAATTAGA 87160810 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__15951386_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2235040 hCV15951386 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GTCCAAAATGGCCAATTAAGACAAA[C/T]ACCAGTAGAAAGGAGGCACGTACCC 87165750 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.13 0.16 0.09 0.08 Homo sapiens C__15951377_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2235039 hCV15951377 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" TTTTTAGGGTCATCAAACCAACTCA[C/T]ATCCTGTGGCACAGAAAATGATTTT 87165854 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__15951371_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2235036 hCV15951371 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" ACAATGACTCCATCATCGAAACCAG[C/T]GATGACGTCAGCATTACGAACTGTA 87175271 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__25473834_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2235013 hCV25473834 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GAATTAGTAGTAGAATGTTCTTATG[C/T]TTATAAATCAGGTTGGTTTGAACTA 87178626 NCBI Build 37.1 Human "7q21.12,7q21.12a" 7 0.44 0.43 0.32 0.34 Homo sapiens C__15951359_40 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/G PharmGKB:PA267 rs2235012 hCV15951359 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" TGTCCAAGGCTGACGTGGCCTCATC[C/G]AGCAGGAGGATCTTGGGGTTGCGAA 87178727 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0.01 0 0 Homo sapiens C__25598028_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/G PharmGKB:PA267 rs35633772 hCV25598028 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" TGCGAACCAGGGCACGTGCAATGGC[A/G]ATCCTCTGCTTCTGCCCACCACTCA 87178772 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.01 0 0 0 Homo sapiens C__11244994_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/G PharmGKB:PA267 rs2235033 hCV11244994 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CATTTTATTTTTTGCACCTCTAGAA[A/G]GGCAAAGGGCAAGGACAACTTACAT 87179143 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.44 0.43 0.3 0.34 Homo sapiens C__11711718_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/G PharmGKB:PA267 rs2032588 hCV11711718 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GCAACATCAGAAAGATGTGCAATGT[A/G]ACTGCTGATCACCGCAGGGTCTAGC 87179443 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.07 0.16 0 0 Homo sapiens C___7586662_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/G PharmGKB:PA267 rs1128503 hCV7586662 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GCCCACTCTGCACCTTCAGGTTCAG[A/G]CCCTTCAAGATCTACCAGGACGAGT 87179601 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.43 0.19 0.32 0.34 Homo sapiens C__15951365_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2229109 hCV15951365 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CTTAACTTCTTTTCGAGATGGGTAA[C/T]TGAAGTGAACATTTCTGAATTCCAA 87179809 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.01 0.01 0 0 Homo sapiens C___1253826_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs10276036 hCV1253826 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" AACCATCAGGCTACTGAGATAGTGA[C/T]AGCAATTTTTTTTCATACTTCTTCT 87180198 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.48 0.24 0.33 0.34 Homo sapiens C__15951353_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2235022 hCV15951353 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CTCCAGCTTTTGCATACGCTAAGAG[C/T]TCTTTATCAGTAAATGAAGATAGTA 87190677 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.01 0 0 0 Homo sapiens C___7586664_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/C PharmGKB:PA267 rs1128501 hCV7586664 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" GAACATTCCAATTTTGTCACCAATT[A/C]CTTCATTAATCTTGGAGACATCACT 87195534 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C__15951331_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/C PharmGKB:PA267 rs2235015 hCV15951331 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CCTAGACCACCACAAAACAAACATA[A/C]CATTTATGTCTCTTTAGTCTCCATT 87199564 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.17 0.33 0.09 0.08 Homo sapiens C__25598039_50 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 G/T PharmGKB:PA267 rs9282565 hCV25598039 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CAGATCTTCTAAATTTCCTGCATTT[G/T]CAAAGATATCTGTCATTTCTCCAAA 87214875 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C___7586795_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs1202183 hCV7586795 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CACCATATACAACTTGTCAAGCCAA[C/T]TTGAATAGCGAAACTAAAAAGAGAG 87214983 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0 0 0 0 Homo sapiens C___2614970_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs9282564 hCV2614970 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" ATGAAACAAGCTAGTTACCTTTTAT[C/T]GTTCAGTTTAAAAAAGTTCTTCTTC 87229440 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.11 0.01 0 0 Homo sapiens C__15852557_20 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 C/T PharmGKB:PA267 rs2214102 hCV15852557 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CATTGCGGTCCCCTTCAAGATCCAT[C/T]CCGACCTGAAGAGAAACCGCAGCTC 87229501 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.1 0 0 0 Homo sapiens C__27487486_10 ABCB1 CLCS|MDR1|P-GP|PGY1|ABC20|CD243|GP170|MGC163296 A/G PharmGKB:PA267 rs3213619 hCV27487486 "ATP-binding cassette, sub-family B (MDR/TAP), member 1" CTTCTTTGAGCTTGGAAGAGCCGCT[A/G]CTCGAATGAGCTCAGGCTTCCTGTG 87230193 NCBI Build 37.1 Human "7q21.12a,7q21.12" 7 0.07 0.07 0.05 0.01 Homo sapiens C___9601994_20 SLC7A5 E16|CD98|LAT1|4F2LC|MPE16|hLAT1|D16S469E C/T rs1060252 hCV9601994 UTR 3 "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5" NM_003486 TCATCTTAGTGGTGTCAAGTTGACC[C/T]AAAATTTAAGTTTAAAAAAAATATA 87866267 NCBI Build 37.1 Human "16q24.2a,16q24.2" 16 0 0 0 0 Homo sapiens C__32357153_10 SLC7A5 E16|CD98|LAT1|4F2LC|MPE16|hLAT1|D16S469E A/G F336 rs1060251 hCV32357153 Silent Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5" NM_003486 TGAACAGGGACCCATTGACGGAGCC[A/G]AAGCAGGACAGGCCCACGAAGACGG 87872355 NCBI Build 37.1 Human "16q24.2,16q24.2a" 16 0 0.05 0 0 Homo sapiens C__30633988_10 SLC7A5 E16|CD98|LAT1|4F2LC|MPE16|hLAT1|D16S469E C/G K230 rs1060250 hCV30633988 Mis-sense Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5" NM_003486 CCAGTTTGGTGCCTTCAAATGAGAA[C/G]TTGGGATCTAGATTGGACACATCAC 87874736 NCBI Build 37.1 Human "16q24.2a,16q24.2" 16 0 0.07 0 0 Homo sapiens C__33744627_10 SLC7A5 E16|CD98|LAT1|4F2LC|MPE16|hLAT1|D16S469E A/T V223 rs17853937 hCV33744627 Mis-sense Mutation "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5" NM_003486 GAAGTTGGGATCTAGATTGGACACA[A/T]CACCTGGCAGGGCCAAAGAAAGGAA 87874758 NCBI Build 37.1 Human "16q24.2a,16q24.2" 16 0 0.02 0 0 Homo sapiens C___8826957_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/T PharmGKB:PA390 rs1138276 hCV8826957 UTR 3 "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 AGTATAGCATTAATACATTTGTCAT[A/T]TATTAAATAATGGCAAACCATAGCA 89012979 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__25617680_30 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 C/T N620 PharmGKB:PA390 rs34783571 hCV25617680 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 TTCCACAAGCCCCAGGGTGAGAGAT[C/T]GATGCCCTGCTTTACCAAATATTCT 89013496 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0.01 0 0 0 Homo sapiens C__29773793_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/T I571 PharmGKB:PA390 rs9282571 hCV29773793 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 GTAAATCCATATCGTGGAATGCTGA[A/T]GTACTGAAGCCATGACAGCCAAGAT 89016698 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__25617682_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 C/T A542 PharmGKB:PA390 rs35965584 hCV25617682 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 ACCATCATAAACACAAAACAGATGG[C/T]CATGAGAAGTGTTGCTACAGAAACC 89018628 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__25617692_30 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/C R525 PharmGKB:PA390 rs58818712 hCV25617692 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 CACACTCTGACCTGCTGCTATGGCC[A/C]GTGCCATGGAACTGGCTGAATAAGC 89018678 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0.01 0 0 Homo sapiens C__27468825_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/C X334 PharmGKB:PA390 rs3201997 hCV27468825 Nonsense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 TAGAAGGAGGAGTTGACATAAATCT[A/C]CGCTAATTTTTCTATGAGTGGCTTA 89034649 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__27458615_40 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/G P248 PharmGKB:PA390 rs3116448 hCV27458615 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 AGGCTATCAAACAACTTGAAGATGG[A/G]ATATCGAGGCTGATGAATGGAGAAG 89039360 NCBI Build 37.1 Human "4q22.1,4q22.1b" 4 0 0 0 0 Homo sapiens C___8826940_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/G S208 PharmGKB:PA390 rs1061018 hCV8826940 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 TAAGCCAGTTGTAGGCTCATCCAAG[A/G]ACAAGATGGAAGGATCAGTGATAAG 89042853 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__31140777_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 G/T L206 PharmGKB:PA390 rs12721643 hCV31140777 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 GTTGTAGGCTCATCCAAGAACAAGA[G/T]GGAAGGATCAGTGATAAGCTCCATT 89042860 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__27458994_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 C/T G188 PharmGKB:PA390 rs3116439 hCV27458994 Silent Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 CTATACTAGTCCTTTTTCTTTCTCC[C/T]CCAGACACACCACGGATAAACTGAG 89042912 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__30633918_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 C/G E166 PharmGKB:PA390 rs1061017 hCV30633918 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 GCCACTTTATCCAGACCTAACTCTT[C/G]AATGACCCTGTTAATCCGTTCGTTT 89052248 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0.01 0 Homo sapiens C__15854163_70 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 G/T K141 PharmGKB:PA390 rs2231142 hCV15854163 Mis-sense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 GCAAGCCGAAGAGCTGCTGAGAACT[G/T]TAAGTTTTCTCTCACCGTCAGAGTG 89052323 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0.09 0.06 0.33 0.44 Homo sapiens C__98388180_20 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 G/A X126 PharmGKB:PA390 rs72552713 hCV98388180 Nonsense Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 AATGCAAACCCACTAATACTTACTT[G/A]TACCACGTAACCTGAATTACATTTG 89052957 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__15854169_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/G Y123 PharmGKB:PA390 rs2231139 hCV15854169 Silent Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 ACCCACTAATACTTACTTGTACCAC[A/G]TAACCTGAATTACATTTGAAATTGG 89052964 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0.09 0 0 Homo sapiens C__31140785_60 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/G S38 PharmGKB:PA390 rs12721640 hCV31140785 Silent Mutation "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 TTACTCGATAGCAGATGTTATGAAA[A/G]CTTAACACAGCTCCTTCAGTAAATG 89061034 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__32327199_10 ABCG2 MRX|MXR|ABCP|BCRP|BMDP|MXR1|ABC15|BCRP1|CD338|CDw338|EST157481|MGC102821 A/C PharmGKB:PA390 rs4148151 hCV32327199 Intron "ATP-binding cassette, sub-family G (WHITE), member 2" NM_004827 AGACATCTGGAGAGTTTTTATCTTT[A/C]TGCAGACAGAAAAGCAATAGTAAGT 89061167 NCBI Build 37.1 Human "4q22.1b,4q22.1" 4 0 0 0 0 Homo sapiens C__33637660_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 G/T V56|V56 rs11559074 hCV33637660 Mis-sense Mutation|Mis-sense Mutation spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 CCTCCGGGGGACCTCGCCGAGGCTG[G/T]AGGCCGAGCTCTGCAGGTAAATCCC 89574992 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0 0 0 Homo sapiens C___3224490_30 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/G A503| rs2292954 hCV3224490 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GAGCCTGAAGCTGACCCAGTCCAGC[A/G]CCTTTTACTCCCAGCGTCTGGCAGA 89613123 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0.27 0.06 0.14 0.16 Homo sapiens C__32351931_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T V572| rs72547551 hCV32351931 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 TCCAAGGAAGAACAGAAAGTGGTTG[C/T]GTTTCATGAGTCGGGCCACGCCTTG 89616953 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0 0 0 Homo sapiens C__32351930_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/G S577| rs72547552 hCV32351930 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GAAAGTGGTTGCGTTTCATGAGTCG[A/G]GCCACGCCTTGGTGGGCTGGATGCT 89616967 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0 0 0 Homo sapiens C__25636283_20 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T A590| rs60488729 hCV25636283 Silent Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GCTGGATGCTGGAGCACACGGAGGC[C/T]GTGATGAAGGTGGGTCTTGGCAGGT 89617008 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0.06 0 0 Homo sapiens C__33637618_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 G/T C623| rs17783943 hCV33637618 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 CACCTCTTCACCAAGGAGCAGCTGT[G/T]TGAGCGGATGTGCATGGCCCTGGGA 89619475 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0 0 0 Homo sapiens C___7518743_20 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T L630| rs1050404 hCV7518743 Silent Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GCTGTTTGAGCGGATGTGCATGGCC[C/T]TGGGAGGACGGGCCTCGGAAGCACT 89619495 NCBI Build 37.1 Human "16q24.3,16q24.3b" 16 0 0 0 0 Homo sapiens C__16117437_30 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/T T645| rs2099104 hCV16117437 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 AGCACTGTCCTTCAACGAGGTCACT[A/T]CTGGTGAGGAGCAGCGGCGCGGGCC 89619540 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0 0 0 Homo sapiens C__32351929_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T L676| rs72547553 hCV32351929 Mis-sense Mutation| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GGCACCTGGCATCGGGCCCATCTCC[C/T]TCCCTGAGGCGCAGGAGGGCCTCAT 89620291 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0 0 0 Homo sapiens C___1035370_30 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/T | rs458440 hCV1035370 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 ATGGAACACTTCGAGTTCCCAGGGT[A/T]ATAGACAGTCGTTCCCAGTGTGGCT 89623779 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0 0 0 Homo sapiens C__29204507_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 A/G | rs8058041 hCV29204507 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 GAGGACTTCTTGCTGGTCTAGTCAC[A/G]CATGCAGTGTTGGGGATGCCTTGGT 89624088 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0.08 0 0 Homo sapiens C__29204506_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/T | rs8059296 hCV29204506 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 CTTCTTGCTGGTCTAGTCACGCATG[C/T]AGTGTTGGGGATGCCTTGGTTTTTA 89624093 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0.08 0 0 Homo sapiens C__29204505_10 SPG7 CAR|PGN|CMAR|SPG5C|FLJ37308|MGC126331|MGC126332 C/G | rs8058221 hCV29204505 UTR 3| spastic paraplegia 7 (pure and complicated autosomal recessive) NM_003119|NM_199367 TGTTGAGATACTTTACTAATAAACT[C/G]TGTAGTTGGAAAATCTACATTTGCA 89624157 NCBI Build 37.1 Human "16q24.3b,16q24.3" 16 0 0.08 0 0 Homo sapiens C__11711420_30 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/C | rs8039 hCV11711420 UTR 3|UTR 3 "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 TTAATAATTACATTATTTTTAGGAA[A/C]TCTTATCAAATATGGTCCTGGATCT 91742348 NCBI Build 37.1 Human "7q21.2a,7q21.2" 7 0.43 0.46 0.14 0.1 Homo sapiens C__27170127_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/G | rs6465348 hCV27170127 UTR 3|UTR 3 "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 TATCTCACTGGGATTTTTATTCTTT[A/G]TACCTTGCAGGACTAGTCCAAGATT 91742602 NCBI Build 37.1 Human "7q21.2a,7q21.2" 7 0.43 0.5 0.14 0.11 Homo sapiens C__25594064_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM C/G | rs7793861 hCV25594064 UTR 3|UTR 3 "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 TCTGCCAATTACCTAGATCCCCCCT[C/G]AACAATTGTTTCACCAAGGAACTTC 91742728 NCBI Build 37.1 Human "7q21.2a,7q21.2" 7 0.43 0.45 0.13 0.11 Homo sapiens C__29454166_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/G H453|H348 rs7797834 hCV29454166 Silent Mutation|Silent Mutation "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 AGGCAAAATTTTCCCCAATACAACG[A/G]TGACGCCCTAAAAAAAAGAAAAAGT 91743150 NCBI Build 37.1 Human "7q21.2a,7q21.2" 7 0.43 0.49 0.14 0.11 Homo sapiens C__25594077_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/G S437|S332 rs59683852 hCV25594077 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 TAGGCAAACTTTTCCCCTGATGCTG[A/G]GTTATCCTGTAAGTAGCGATCAGGA 91746400 NCBI Build 37.1 Human "7q21.2a,7q21.2" 7 0.01 0 0 0 Homo sapiens C__25594075_20 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/G X296X|X191X rs61735065 hCV25594075 Nonsense Mutation|Nonsense Mutation "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 TATGTTATCTGAATAGCTCTTACTT[A/G]TATGTAGCATCTAGTAAAGTTTGGA 91753050 NCBI Build 37.1 Human "7q21.2a,7q21.2" 7 0 0 0 0 Homo sapiens C__29454165_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM G/T T185|T80 rs72552785 hCV29454165 Silent Mutation|Silent Mutation "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 CTCCCCAACTCTCAAAGTATTCCTT[G/T]GTTTCTTTTTCAATTATAGAAACAT 91756859 NCBI Build 37.1 Human "7q21.2,7q21.2a" 7 0 0 0 0 Homo sapiens C__27170117_10 CYP51A1 LDM|CP51|CYP51|CYPL1|P450L1|P450-14DM A/G A19| rs2229188 hCV27170117 Mis-sense Mutation| "cytochrome P450, family 51, subfamily A, polypeptide 1" NM_000786|NM_001146152 CACCTTCTCCATCGCCTGGCCCAGC[A/G]CCGACCCACCCGCCTGCAGCAAGCC 91763623 NCBI Build 37.1 Human "7q21.2a,7q21.2" 7 0 0 0 0 Homo sapiens C__25626405_20 CYP26C1 FLJ45301 C/T S3 rs34954610 hCV25626405 Mis-sense Mutation "cytochrome P450, family 26, subfamily C, polypeptide 1" NM_183374 TGGCCCCCGCGGGCTCATCATGTTC[C/T]CTTGGGGGCTGAGCTGCCTGTCAGT 94821027 NCBI Build 37.1 Human "10q23.33a,10q23.33" 10 0 0.01 0 0 Homo sapiens C__25626412_30 CYP26C1 FLJ45301 A/G Q238 rs7917267 hCV25626412 Mis-sense Mutation "cytochrome P450, family 26, subfamily C, polypeptide 1" NM_183374 TCTCTCCCTGAACATCAGGGCATCC[A/G]GGCAAGGGACCAGCTGCATCGGCAC 94824145 NCBI Build 37.1 Human "10q23.33,10q23.33a" 10 0 0.02 0 0 Homo sapiens C__25626413_20 CYP26C1 FLJ45301 A/G Q245 rs11187265 hCV25626413 Mis-sense Mutation "cytochrome P450, family 26, subfamily C, polypeptide 1" NM_183374 ATCCGGGCAAGGGACCAGCTGCATC[A/G]GCACCTGGAGGGGGCCATTTCTGAG 94824166 NCBI Build 37.1 Human "10q23.33a,10q23.33" 10 0.13 0.13 0.01 0.01 Homo sapiens C__25765356_30 CYP26A1 CP26|CYP26|P450RAI|P450RAI1|RP11-348J12.1 C/T F144|F75 rs60549655 hCV25765356 Silent Mutation|Silent Mutation "cytochrome P450, family 26, subfamily A, polypeptide 1" NM_000783|NM_057157 GGACTCAGGTGATTATGCGGGCCTT[C/T]AGCCGCGAGGCACTCGAATGCTACG 94834553 NCBI Build 37.1 Human "10q23.33a,10q23.33" 10 0.01 0 0 0 Homo sapiens C__16172083_30 CYP26A1 CP26|CYP26|P450RAI|P450RAI1|RP11-348J12.1 C/G G438|G369 rs2229104 hCV16172083 Silent Mutation|Silent Mutation "cytochrome P450, family 26, subfamily A, polypeptide 1" NM_000783|NM_057157 TCAGCTTCATTCCATTTGGAGGAGG[C/G]CTTAGGAGCTGTGTAGGCAAAGAAT 94836881 NCBI Build 37.1 Human "10q23.33a,10q23.33" 10 0 0 0 0 Homo sapiens C__33461171_10 PON1 ESA|PON|MVCD5 -/A hCV33461171 paraoxonase 1 NM_000446 TTGGGATGGCATCCAACCCAAAGGT[-/A]CTCCTGTCTCAGGATCCACAGATAT 94931591 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0 0 0 Homo sapiens C___2548962_20 PON1 ESA|PON|MVCD5 C/T R192 rs662 hCV2548962 Mis-sense Mutation paraoxonase 1 NM_000446 TAAACCCAAATACATCTCCCAGGAT[C/T]GTAAGTAGGGGTCAAGAAAATAGTG 94937446 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0.19 0.38 0.39 0.41 Homo sapiens C__31373257_10 PON1 ESA|PON|MVCD5 C/T G160 rs13306698 hCV31373257 Mis-sense Mutation paraoxonase 1 NM_000446 CAGTACTTAGGCAGAAGTTTATGTC[C/T]GATGGTTTTTAGATGCAAAAGCGAT 94940782 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0 0.09 0.01 Homo sapiens C__25628704_10 PON1 ESA|PON|MVCD5 C/T L109L rs61736513 hCV25628704 Mis-sense Mutation paraoxonase 1 NM_000446 ATCCCATGAGGGTTAAATGAAGATA[C/T]ATCAAATTTACTTCCAGTGATCCCC 94944679 NCBI Build 37.1 Human "7q21.3,7q21.3b" 7 0 0 0 0 Homo sapiens C__32339722_10 PON1 ESA|PON|MVCD5 C/T V102 rs72552787 hCV32339722 Mis-sense Mutation paraoxonase 1 NM_000446 GATACATCAAATTTACTTCCAGTGA[C/T]CCCCAATTCCAACACTGTTGGATCT 94944700 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0 0 0 Homo sapiens C__29866300_10 PON1 ESA|PON|MVCD5 A/G P90 rs72552788 hCV29866300 Mis-sense Mutation paraoxonase 1 NM_000446 CAACACTGTTGGATCTTCTTCATTC[A/G]GGTCCATCAGAAGTATTTTTCCAGG 94944735 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0 0 0 Homo sapiens C___2259750_20 PON1 ESA|PON|MVCD5 A/T M55 rs854560 hCV2259750 Mis-sense Mutation paraoxonase 1 NM_000446 GCCAGTCCATTAGGCAGTATCTCCA[A/T]GTCTTCAGAGCCAGTTTCTGCCAGA 94946084 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0.37 0.2 0.05 0.02 Homo sapiens C__25996062_20 PON3 G/T rs17883013 hCV25996062 paraoxonase 3 NM_000940 GTTGGTAAAATAGTGGTCTCTGGTG[G/T]CATAGAACTGTTCTGGTCCAAGAAC 94993334 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0.06 0 0 Homo sapiens C__26000843_20 PON3 C/T rs17879114 hCV26000843 paraoxonase 3 NM_000940 GGGGATGATTCACAACATAAAGATA[C/T]ACAGTATTGTCTACATGGAAAAAAG 94996790 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0.14 0 0 Homo sapiens C__15783507_20 PON3 C/T N107 rs2375003 hCV15783507 Mis-sense Mutation paraoxonase 3 NM_000940 CCATGTGGATTAAATAATTCTTTGT[C/T]AAATCCACCACTGATTTCTAGCGCT 95001533 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0 0 0 Homo sapiens C___2630120_30 PON3 C/T A99 rs1053275 hCV2630120 Silent Mutation paraoxonase 3 NM_000940 TGTCAAATCCACCACTGATTTCTAG[C/T]GCTTGTGCCCTTGGGTTTTGTTCAT 95001555 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0.38 0.48 0.16 0.3 Homo sapiens C___2630132_20 PON3 A/G rs13226149 hCV2630132 paraoxonase 3 NM_000940 AAGATGCCACTCACCTAAACGCCAG[A/G]AACATCTCCCCGACTAAGGACAGGC 95025600 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0.17 0.28 0.27 0.19 Homo sapiens C___8952817_20 PON2 C/G C311|C299 PharmGKB:PA33530 rs7493 hCV8952817 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 AACTGTAGTCACTGTAGGCTTCTCA[C/G]ATAGAATGTTCTGGATGCGGAGAAC 95034775 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0.13 0.23 0.26 0.21 Homo sapiens C__25639097_20 PON2 C/G L172|L160 PharmGKB:PA33530 rs17876152 hCV25639097 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 GTGGCATAGAAATGTGCCGGTCCAA[C/G]AGCTGTGATGTCATTCACACTGAAA 95039394 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0.02 0 0 Homo sapiens C___2630153_20 PON2 C/G G148|G136 PharmGKB:PA33530 rs12026 hCV2630153 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 TTTCAGATGCAACAGAGAATTTTCT[C/G]CTTCTTCAAATTTAAAAATTTCCAC 95041016 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0.12 0.23 0.25 0.21 Homo sapiens C__31373230_10 PON2 C/T K91|K91 PharmGKB:PA33530 rs13306701 hCV31373230 Silent Mutation|Silent Mutation paraoxonase 2 NM_000305|NM_001018161 ATTCCCGTGCCCTTGGTTTTTCTTC[C/T]TTTAGATCCATCATTAGTATTCCTC 95041718 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0 0.02 0 Homo sapiens C__31373228_10 PON2 A/G F31|F31 PharmGKB:PA33530 rs13306699 hCV31373228 Mis-sense Mutation|Mis-sense Mutation paraoxonase 2 NM_000305|NM_001018161 AAGGTCTACAGATTCTACTTCTCTG[A/G]AGGCTTTAAGTCGATTTCTGTTACA 95053880 NCBI Build 37.1 Human "7q21.3b,7q21.3" 7 0 0 0 0 Homo sapiens C___8059538_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G | PharmGKB:PA397 rs34559063 hCV8059538 |UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TATAGACATTTTGAATATAGCTATC[A/G]TTTTAACAAACCTCATTATGATCAC 95672237 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.42 0.41 0.48 0.45 Homo sapiens C___7461512_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G | PharmGKB:PA397 rs1059754 hCV7461512 |UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CATCTGTTGCTCTCTGCTGATGAGC[A/G]AAAAACTTGCTATACGAAGGACAAA 95672478 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C___7461507_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G | PharmGKB:PA397 rs1059751 hCV7461507 |UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 ATACAGCCCAAACCAAAAGGCTTAC[A/G]GTCAACAGAGGGTTAGCCTTCCATA 95672950 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.44 0.26 0.48 0.44 Homo sapiens C__29165754_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T | PharmGKB:PA397 rs4148553 hCV29165754 |UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GAGGATGGACGGTCACATTTGTGTC[C/T]TTCAGTATCAAAGCACCTTTAAGGG 95673135 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.43 0.25 0.47 0.45 Homo sapiens C__30633960_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T | PharmGKB:PA397 rs4148551 hCV30633960 |UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 ACAACAACAAAAACCTGTGACAACT[C/T]TGTCCTACTCCTTTAAAAATGAGCT 95673518 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.42 0.43 0.47 0.45 Homo sapiens C___8059522_1_ ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C | PharmGKB:PA397 rs3742106 hCV8059522 |UTR 3 "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GTTTACATAGTCCAAAAACTAGTGG[A/C]AAATGCCTTCGGAACGGACTTGACA 95673791 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.41 0.32 0.48 0.44 Homo sapiens C__31356289_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T |R1314 PharmGKB:PA397 rs11568688 hCV31356289 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CTCGAAAATAGTTAAGGTCGAGGGC[C/T]GTCCATTGGAAGTGTTTGTAACCAT 95673866 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.01 0 0 Homo sapiens C__25611322_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T |P1258 PharmGKB:PA397 rs11568704 hCV25611322 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TCTCTTTATTTTGCAGCAAAACATA[C/T]GGCTCATCATATTCTTTCAGTCTTC 95686955 NCBI Build 37.1 Human "13q32.1,13q32.1a" 13 0 0.02 0 0 Homo sapiens C__31356304_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G |S1241 PharmGKB:PA397 rs11568640 hCV31356304 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GTGAAGGACTCACCATTATCTTGTC[A/G]CTGTCAATAATGGTGTTCAATCTGT 95695948 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__31356305_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T |Q1220 PharmGKB:PA397 rs11568639 hCV31356305 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CACGGTGCAGTGGGCAAATTTCTCC[C/T]GGATTTTTTTTTGTATTAACTCATC 95696012 NCBI Build 37.1 Human "13q32.1,13q32.1a" 13 0 0 0 0 Homo sapiens C__25472789_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T |A1203 PharmGKB:PA397 rs11568695 hCV25472789 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TATACCTTGGATCCACATTTGCCGT[C/T]GCTTCATCAATAATCAATATCTGAT 95696540 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.02 0.13 0 0 Homo sapiens C__31356316_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G |M1142 PharmGKB:PA397 rs11568644 hCV31356316 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TAAGGCATTCCACAGTTCCTCATCC[A/G]TGTGCTCATTAAAGGGATCCAGGTT 95705380 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.01 0 0 0 Homo sapiens C___1901918_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T | PharmGKB:PA397 rs1751034 hCV1901918 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TGCATACCTGAGGTATGATTGACAT[C/T]TTCTTCCTTAAATCGTGAAGTCCAA 95714976 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.17 0.31 0.26 0.14 Homo sapiens C__31356328_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G | PharmGKB:PA397 rs11568655 hCV31356328 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TCGTGAAGTCCAATTTCAGTTGTCA[A/G]GATCTTATCAATCCAAATTTTACCT 95715014 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.07 0 0 Homo sapiens C__31356329_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 G/T | PharmGKB:PA397 rs11568652 hCV31356329 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GTTCTGACAATCTAAAAAGGGCTGA[G/T]ATGAGGGAACTTTTTCCAGCTCCGG 95715069 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.01 0 0 Homo sapiens C__31356330_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T | PharmGKB:PA397 rs11568653 hCV31356330 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GCTCCGGTTCTTCCCACAATGCCAA[C/T]CTACAGAGAGATCCAGGCGGCAGGA 95715113 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.01 0 0 Homo sapiens C__25611330_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G |X985X PharmGKB:PA397 rs62637636 hCV25611330 |Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GAAACATCCCCATGAGCGTGAGGGC[A/G]TAGGACAGTGCCAAACCAACCTGCC 95725521 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__31356339_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/G |S956 PharmGKB:PA397 rs11568707 hCV31356339 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GGCAACGATGATGACAAACATGGCA[C/G]AGATGGCATCCAGACGGACGGCAAA 95726518 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C___7466330_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G |F948 PharmGKB:PA397 rs1189466 hCV7466330 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CACAGATGGCATCCAGACGGACGGC[A/G]AACCAGCGGGACGTTGTCAAAAACA 95726541 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.06 0.09 0.22 0.13 Homo sapiens C___7466337_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T |L904 PharmGKB:PA397 rs1678339 hCV7466337 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TCCAGAGCCCCTGGAGAGAAGATGA[C/T]AAGTGGGAAAACACTGGACTCCGAG 95727780 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.07 0.14 0.23 0.12 Homo sapiens C__31356341_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C |L900 PharmGKB:PA397 rs45504892 hCV31356341 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 AGAGAAGATGATAAGTGGGAAAACA[A/C]TGGACTCCGAGCTGGGGAAACAGAC 95727794 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__25611279_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T R827|R827 PharmGKB:PA397 rs60532299 hCV25611279 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CAAATCATCCAAGTGTCCAATGTCT[C/T]TGGAGAAACGATTTAAAATTCTTCC 95768231 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.01 0 0 Homo sapiens C__31356362_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C I820|I820 PharmGKB:PA397 rs11568659 hCV31356362 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GTCTTTGGAGAAACGATTTAAAATT[A/C]TTCCTGCAAGAACAGGATATGAAAA 95768252 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__27478235_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T K757|K757 PharmGKB:PA397 rs3765534 hCV27478235 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 AAGTACCAGTTAAGATCTAGCTTCT[C/T]GGTTACATTTCCTCCTCCATTTACA 95815415 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.02 0 0.23 0.04 Homo sapiens C__25611283_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T V744|V744 PharmGKB:PA397 rs9282570 hCV25611283 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CCTCCATTTACAGTGACATTTAGCA[C/T]ACTTTGTTTGTTTGCCCTATGGAAC 95815454 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.01 0.03 0 0 Homo sapiens C__33437458_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 -/A | PharmGKB:PA397 rs72559753 hCV33437458 Frame Shift InDel|Frame Shift InDel "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TTCACTTTCCTCATTATCCTTCTTT[-/A]AAAGGGAGCCAAAATCTATACCAGA 95818554 NCBI Build 37.1 Human "13q32.1,13q32.1a" 13 0 0 0 0 Homo sapiens C__31356405_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G C579|C579 PharmGKB:PA397 rs11568664 hCV31356405 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TTGTGATCTTCTCATGCAAAATTTG[A/G]CAAATACACCTATAAATGTAAAAGG 95822873 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C___7466669_30 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G Y499|Y499 PharmGKB:PA397 rs1557070 hCV7466669 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TGACTTTTTCATATCGTTCCTTTTC[A/G]TATTTCTTCCCAAATAAAATATTAC 95839003 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.26 0 0 Homo sapiens C__25611298_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T E498|E498 PharmGKB:PA397 rs11568669 hCV25611298 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TTTTCATATCGTTCCTTTTCGTATT[C/T]CTTCCCAAATAAAATATTACTCCTC 95839008 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.02 0 0 Homo sapiens C__29454129_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T G450|G450 PharmGKB:PA397 rs72559754 hCV29454129 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GCCAAAAGCCATTCTAACTCACCTT[C/T]CCTGCTCCCACGGGGCCGACCACAG 95840710 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__25611309_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G L403|L403 PharmGKB:PA397 rs11568705 hCV25611309 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 ATGCACCATCTTTTTACCATCTGAC[A/G]GCAGCTGACGGTTGCGCTGTGATAT 95847145 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0.02 0 0 Homo sapiens C__31356437_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G M356|M356 PharmGKB:PA397 rs11568701 hCV31356437 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CGTCAGCCGCACAGCCCCATACAGC[A/G]TCACTGCCACGAACACGCGGCTGGC 95858880 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__31356438_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T V345|V345 PharmGKB:PA397 rs11568703 hCV31356438 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CCACGAACACGCGGCTGGCTGTGAT[C/T]ACACTGCCGAGGAGCACGTAGGTGG 95858912 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__25473942_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T | PharmGKB:PA397 rs2274405 hCV25473942 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CGATGATTTTGCTTGCACTGAAAAA[C/T]GAAGCCAAATTCATCCCTCTGAGGC 95858978 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.41 0.4 0.45 0.5 Homo sapiens C__25473870_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T | PharmGKB:PA397 rs2274406 hCV25473870 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TGAAAAATGAAGCCAAATTCATCCC[C/T]CTGAGGCAGGAACTTCTCAGAATCT 95858996 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.43 0.31 0.48 0.5 Homo sapiens C__16181780_20 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C | PharmGKB:PA397 rs2274407 hCV16181780 | "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TTCTCAGAATCTTGGAAATCTCCTT[A/C]CTGAAAGAGAGTACAGGTTTTTAAA 95859035 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.13 0.16 0.25 0.16 Homo sapiens C__31356439_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T E293|E293 PharmGKB:PA397 rs11568684 hCV31356439 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 TTGGTAATAAGATTTGAAAATGACT[C/T]TTCCCAGGCGTACATTTTTATTATC 95860088 NCBI Build 37.1 Human "13q32.1,13q32.1a" 13 0 0 0 0 Homo sapiens C__31356443_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 C/T L244|L244 PharmGKB:PA397 rs11568679 hCV31356443 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 AGCTTTGCAAGGGCAGGAGAATGAT[C/T]AGAACTGCCATCCCAGCAAGGCACG 95861741 NCBI Build 37.1 Human "13q32.1,13q32.1a" 13 0 0 0 0 Homo sapiens C__31356444_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/G A239|A239 PharmGKB:PA397 rs11568674 hCV31356444 Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 GGAGAATGATTAGAACTGCCATCCC[A/G]GCAAGGCACGATATTCCTATCTCCA 95861756 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__31356445_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C W187|W187 PharmGKB:PA397 rs11568658 hCV31356445 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 ACTATCTGGCCTGTGGTTGTCTTCC[A/C]CATGGCCATGTTACTAAGACGAAGT 95863008 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0.01 0 0.08 0.06 Homo sapiens C__30633961_10 ABCC4 MRP4|MOATB|MOAT-B|EST170205|RP11-74A12.1 A/C G171|G171 PharmGKB:PA397 rs4148460 hCV30633961 Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 4" NM_001105515|NM_005845 CTTACCTTCCGATAAATCATATGGC[A/C]CATGGCTACTCGTAACCTCATCCCA 95886884 NCBI Build 37.1 Human "13q32.1a,13q32.1" 13 0 0 0 0 Homo sapiens C__31983367_60 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 C/T L170|L170 rs11188056 hCV31983367 Silent Mutation|Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 CTCACCCTGTGATCCCACTTTCATC[C/T]TGGGCTGTGCTCCCTGCAATGTGAT 96454700 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__34329281_10 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 -/T F194F|F194F rs72558183 hCV34329281 Frame Shift InDel|Frame Shift InDel "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 ATTTGATTATAAAGATCAGAGGTTT[-/T]CTTAACTTGATGGAAAAATTCAATG 96454775 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0 0 0 0 Homo sapiens C__31983366_20 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 C/T L208|L208 rs11188057 hCV31983366 Silent Mutation|Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 AAAATTCAATGAAAACCTCAGGATT[C/T]TGAGCTCTCCATGGATCCAGGTGAG 96454814 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0 0 0 0 Homo sapiens C__25761935_10 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 C/T I299|I240 rs60181876 hCV25761935 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 GTAACTGATATGTTTGGGGCTGGAA[C/T]AGAGACAACGAGCACCACTCTGAGA 96480229 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.03 0 0 Homo sapiens C__25621246_20 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 G/T L330|L271 rs59636573 hCV25621246 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 TAAAGTCCAGGAAGAGATTGAATGT[G/T]TAGTTGGCAGAAACCGGAGCCCCTG 96484129 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.01 0 0 Homo sapiens C___7538986_50 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 C/T M385|M326 rs2281891 hCV7538986 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 TGTCTGTTTTGCTATTTTCAGGGCA[C/T]GACCATAATAACATCCCTGACTTCT 96493058 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.16 0.1 0.2 0.33 Homo sapiens C__11201742_10 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 C/T | rs2860840 hCV11201742 UTR 3|UTR 3 "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 GGCAGATAGTTTGGCTGCTCCTGTG[C/T]TGTCACCTGCAATTCTCCCTTATCA 96495232 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.42 0.09 0.26 0.16 Homo sapiens C__27474564_70 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 A/G | rs3740367 hCV27474564 UTR 3|UTR 3 "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 GCAATTCTCCCTTATCAGGGCCATT[A/G]GCCTCTCCCTTCTCTCTGTGAGGGA 96495266 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.08 0.05 0.06 0.01 Homo sapiens C___1980239_20 CYP2C18 CPCI|CYP2C|CYP2C17|P450IIC17|P450-6B/29C|DKFZp686I24235|RP11-466J14.4 A/C | rs1326830 hCV1980239 UTR 3|UTR 3 "cytochrome P450, family 2, subfamily C, polypeptide 18" NM_000772|NM_001128925 AGCAGCTGTAACCTGTAGGGAAATA[A/C]TGGAACAATCATCCATAAGAGGGAT 96495793 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.01 0 0.14 0.2 Homo sapiens C____469857_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*17,g.-806C>T" C/T PharmGKB:PA124 rs12248560 hCV469857 "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 AAATTTGTGTCTTCTGTTCTCAAAG[C/T]ATCTCTGATGTAAGAGATAATGCGC 96521657 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.17 0.14 0.01 0 Homo sapiens C__30634136_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*4,c.1A>G|CYP2C19*4,g.1A>G" A/G D0 PharmGKB:PA124 rs28399504 hCV30634136 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 GTCTTAACAAGAGGAGAAGGCTTCA[A/G]TGGATCCTTTTGTGGTCCTTGTGCT 96522463 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0 0 0 0 Homo sapiens C__30634135_30 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*14,c.50T>C|CYP2C19*14,g.50T>C" C/T P17 PharmGKB:PA124 rs55752064 hCV30634135 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 CTCTGTCTCTCATGTTTGCTTCTCC[C/T]TTCAATCTGGAGACAGAGCTCTGGG 96522512 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__30634134_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*15,c.55A>C|CYP2C19*15,g.55A>C" A/C L19 PharmGKB:PA124 rs17882687 hCV30634134 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 TCTCTCATGTTTGCTTCTCCTTTCA[A/C]TCTGGAGACAGAGCTCTGGGAGAGG 96522517 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.01 0.01 0 0 Homo sapiens C__30634133_20 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*10,c.99C>T|CYP2C19*10,g.99C>T|CYP2C19*11,c.99C>T|CYP2C19*11,g.99C>T|CYP2C19*12,c.99C>T|CYP2C19*12,g.99C>T|CYP2C19*14,c.99C>T|CYP2C19*14,g.99C>T|CYP2C19*17,c.99C>T|CYP2C19*17,g.99C>T|CYP2C19*18,c.99C>T|CYP2C19*18,g.99C>T|CYP2C19*19,c.99C>T|CYP2C19*19,g.99C>T|CYP2C19*1B,c.99C>T|CYP2C19*1B,g.99C>T|CYP2C19*2A,c.99C>T|CYP2C19*2A,g.99C>T|CYP2C19*2B,c.99C>T|CYP2C19*2B,g.99C>T|CYP2C19*2C,c.99C>T|CYP2C19*2C,g.99C>T|CYP2C19*4,c.99C>T|CYP2C19*4,g.99C>T|CYP2C19*5B,c.99C>T|CYP2C19*5B,g.99C>T|CYP2C19*6,c.99C>T|CYP2C19*6,g.99C>T|CYP2C19*9,c.99C>T|CYP2C19*9,g.99C>T" C/T P33 PharmGKB:PA124 rs17885098 hCV30634133 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 GGAGAGGAAAACTCCCTCCTGGCCC[C/T]ACTCCTCTCCCAGTGATTGGAAATA 96522561 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.11 0.12 0.2 0.04 Homo sapiens C__63578369_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19,c.221T>C" C/T T74 PharmGKB:PA124 rs28399505 hCV63578369 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 ACTCTGTATTTTGGCCTGGAACGCA[C/T]GGTGGTGCTGCATGGATATGAAGTG 96534867 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__11383554_70 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*2B,c.276G>C|CYP2C19*2B,g.12460G>C" G/C D92 PharmGKB:PA124 rs17878459 hCV11383554 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 AGGAAGCCCTGATTGATCTTGGAGA[G/C]GAGTTTTCTGGAAGAGGCCATTTCC 96534922 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.02 0.01 0 0 Homo sapiens C__30634130_30 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*8,c.358T>C|CYP2C19*8,g.12711T>C" C/T R120 PharmGKB:PA124 rs41291556 hCV30634130 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 AATCGTTTTCAGCAATGGAAAGAGA[C/T]GGAAGGAGATCCGGCGTTTCTCCCT 96535173 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__27531918_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*6,c.395G>A|CYP2C19*6,g.12748G>A" A/G Q132 PharmGKB:PA124 rs72552267 hCV27531918 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 CGGCGTTTCTCCCTCATGACGCTGC[A/G]GAATTTTGGGATGGGGAAGAGGAGC 96535210 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0 0 0 0 Homo sapiens C__25745302_30 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*9,c.431G>A|CYP2C19*9,g.12784G>A" A/G H144 PharmGKB:PA124 rs28399507 hCV25745302 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 ATGGGGAAGAGGAGCATTGAGGACC[A/G]TGTTCAAGAGGAAGCCCGCTGCCTT 96535246 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.03 0 0 Homo sapiens C__30634129_20 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*11,c.449G>A|CYP2C19*11,g.12802G>A" A/G H150 PharmGKB:PA124 rs58973490 hCV30634129 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 GAGGACCGTGTTCAAGAGGAAGCCC[A/G]CTGCCTTGTGGAGGAGTTGAGAAAA 96535264 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0.01 0 0 0 Homo sapiens C__25741767_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 A/G S176 PharmGKB:PA124 rs57700608 hCV25741767 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 TTCATCCTGGGCTGTGCTCCCTGCA[A/G]TGTGATCTGCTCCATTATTTTCCAG 96540301 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.01 0 0.02 Homo sapiens C__27861809_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*3,c.636G>A|CYP2C19*3A,c.636G>A|CYP2C19*3A,g.17948G>A|CYP2C19*3B,c.636G>A|CYP2C19*3B,g.17948G>A|CYP2C19,c.636G>T/C/A" A/G X212 PharmGKB:PA124 rs4986893 hCV27861809 Nonsense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 ACATCAGGATTGTAAGCACCCCCTG[A/G]ATCCAGGTAAGGCCAAGTTTTTTGC 96540410 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0 0 0.14 0.03 Homo sapiens C__25986767_70 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*2A,c.681G>A|CYP2C19*2A,g.19154G>A|CYP2C19*2B,c.681G>A|CYP2C19*2B,g.19154G>A|CYP2C19*2C,c.681G>A|CYP2C19*2C,g.19154G>A" A/G PharmGKB:PA124 rs4244285 hCV25986767 "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 TTCCCACTATCATTGATTATTTCCC[A/G]GGAACCCATAACAAATTACTTAAAA 96541616 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.14 0.1 0.19 0.32 Homo sapiens C__34328665_20 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 -/G E241G PharmGKB:PA124 rs72558185 hCV34328665 Frame Shift InDel "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 TTACTTAAAAACCTTGCTTTTATGG[-/G]AAAGTGATATTTTGGAGAAAGTAAA 96541657 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__30634127_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*7,g.19294T>A" A/T PharmGKB:PA124 rs72558186 hCV30634127 Intron "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 TGCTTCCTGATCAAAATGGAGAAGG[A/T]AAAATGTTAACAAAAGCTTAGTTAT 96541756 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C___1329163_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*2A,c.990C>T|CYP2C19*2A,g.80160C>T|CYP2C19*2B,c.990C>T|CYP2C19*2B,g.80160C>T|CYP2C19*2C,c.990C>T|CYP2C19*2C,g.80160C>T" C/T V330 PharmGKB:PA124 rs3758580 hCV1329163 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 AAGTCCAGGAAGAGATTGAACGTGT[C/T]GTTGGCAGAAACCGGAGCCCCTGCA 96602622 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.15 0.1 0.18 0.32 Homo sapiens C__30634124_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*13,c.1228C>T|CYP2C19*13,g.87290C>T" C/T C410 PharmGKB:PA124 rs17879685 hCV30634124 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 TCCCAACCCAGAGATGTTTGACCCT[C/T]GTCACTTTCTGGATGAAGGTGGAAA 96609752 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.02 0 0 Homo sapiens C__34816135_20 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*3,c.1251A>C|CYP2C19*3A,c.1251A>C|CYP2C19*3A,g.87313A>C|CYP2C19*3B,c.1251A>C|CYP2C19*3B,g.87313A>C" A/C G417 PharmGKB:PA124 rs17886522 hCV34816135 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 CTCGTCACTTTCTGGATGAAGGTGG[A/C]AATTTTAAGAAAAGTAACTACTTCA 96609775 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.03 0.14 0.03 Homo sapiens C__27861810_10 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*5A,c.1297C>T|CYP2C19*5A,g.90033C>T|CYP2C19*5B,c.1297C>T|CYP2C19*5B,g.90033C>T" C/T W433 PharmGKB:PA124 rs56337013 hCV27861810 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 CCTATGTTTGTTATTTTCAGGAAAA[C/T]GGATTTGTGTGGGAGAGGGCCTGGC 96612495 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__30634123_20 CYP2C19 CPCJ|CYP2C|P450C2C|P450IIC19|RP11-400G3.4 "CYP2C19*12,c.1473A>C|CYP2C19*12,g.90209A>C" A/C C491 PharmGKB:PA124 rs55640102 hCV30634123 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 19" NM_000769 ATCAGCTGTGCTTCATTCCTGTCTG[A/C]AGAAGCACAGATGGTCTGGCTGCTC 96612671 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__31983739_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*18,g.-1911T>C|CYP2C9*3A,g.-1911T>C|CYP2C9*3B,g.-1911T>C" C/T PharmGKB:PA126 rs9332092 hCV31983739 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GTTTCATGAGTCAGGGACCAAGTTA[C/T]TGCTTTTCTTTGCCCTGTATAAAGG 96696529 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.1 0.02 0.07 0.01 Homo sapiens C__34816138_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*18,g.-1537G>A|CYP2C9*3A,g.-1537G>A|CYP2C9*3B,g.-1537G>A" A/G PharmGKB:PA126 rs61604699 hCV34816138 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 AAATGGGTCAATTTTATTGTAAGCA[A/G]AGGTAATTGAGAGATTCAAAAGGGA 96696903 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.1 0.03 0.07 0.01 Homo sapiens C___1329192_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*11B,g.-1188T>C|CYP2C9*16,g.-1188T>C|CYP2C9*18,g.-1188T>C|CYP2C9*19,g.-1188T>C|CYP2C9*1B,g.-1188T>C|CYP2C9*1C,g.-1188T>C|CYP2C9*20,g.-1188T>C|CYP2C9*26,g.-1188T>C|CYP2C9*27,g.-1188T>C|CYP2C9*2A,g.-1188T>C|CYP2C9*2B,g.-1188T>C|CYP2C9*3B,g.-1188T>C" C/T PharmGKB:PA126 rs4918758 hCV1329192 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TAGTGATTTCCCTACCTCCCATCTT[C/T]TATTGCATCCACAACTGTGGTTCTG 96697252 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.48 0.29 0.41 0.36 Homo sapiens C__27883407_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*2A,g.-1096A>G|CYP2C9*2B,g.-1096A>G|CYP2C9*2C,g.-1096A>G" A/G PharmGKB:PA126 rs4917636 hCV27883407 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 CTGAAAATGAGAAACCAAAAACAAT[A/G]GAAAGCAGCCATGTCTGGAGGTGAC 96697344 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.19 0.02 0 0 Homo sapiens C__31983715_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*18,g.-981G>A|CYP2C9*3A,g.-981G>A|CYP2C9*3B,g.-981G>A" A/G PharmGKB:PA126 rs9332098 hCV31983715 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 AGCGTTTCACTTCTGCAGTGATGGA[A/G]AAGGGAGATCCCTTATTTCTTCTCA 96697459 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.1 0.02 0.07 0.01 Homo sapiens C__31983710_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*2A,g.-620G>T|CYP2C9*2B,g.-620G>T|CYP2C9*2C,g.-620G>T" G/T PharmGKB:PA126 rs9332100 hCV31983710 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 AGGAATTTTTTTTAGGGGGTTTAAT[G/T]GTAAAGGTGTTTATATCTGCTAAGG 96697820 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.19 0.02 0 0 Homo sapiens C__30634138_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*7,c.55C>A|CYP2C9*7,g.55C>A" A/C I19 PharmGKB:PA126 rs67807361 hCV30634138 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TCTCTCATGTTTGCTTCTCCTTTCA[A/C]TCTGGAGACAGAGCTCTGGGAGAGG 96698494 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__34329538_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9,g.3235G>A" A/G V76 PharmGKB:PA126 rs17847036 hCV34329538 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 ATTTTGGCCTGAAACCCATAGTGGT[A/G]CTGCATGGATATGAAGCAGTGAAGG 96701674 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__34816136_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*13,c.269T>C|CYP2C9*13,g.3276T>C" C/T P90 PharmGKB:PA126 rs74052158 hCV34816136 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GCAGTGAAGGAAGCCCTGATTGATC[C/T]TGGAGAGGAGTTTTCTGGAAGAGGC 96701715 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__32389044_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 A/C PharmGKB:PA126 hCV32389044 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 AGTTTCGTTTCTCTTCCTGTTAGGA[A/C]TTGTTTTCAGCAATGGAAAGAAATG 96701951 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__72649992_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*25,c.353_362delAGAAATGGAA|CYP2C9*25,g.3531_3540delAGAAATGGAA" AGAAATGGAA/- KKWK118 PharmGKB:PA126 hCV72649992 Frame Shift Delete "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 AATTGTTTTCAGCAATGGAA[AGAAATGGAA/-]GGAGATCCGGCGTTTCTCCCT 96701970 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__27434981_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 A/G Q124 PharmGKB:PA126 rs12414460 hCV27434981 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 AATGGAAAGAAATGGAAGGAGATCC[A/G]GCGTTTCTCCCTCATGACGCTGCGG 96701988 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__25625805_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*2A,c.430C>T|CYP2C9*2A,g.3608C>T|CYP2C9*2B,c.430C>T|CYP2C9*2B,g.3608C>T|CYP2C9*2C,c.430C>T|CYP2C9*2C,g.3608C>T" C/T C144 PharmGKB:PA126 rs1799853 hCV25625805 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GATGGGGAAGAGGAGCATTGAGGAC[C/T]GTGTTCAAGAGGAAGCCCGCTGCCT 96702047 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.17 0.02 0 0 Homo sapiens C__25625804_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*27,c.449G>T|CYP2C9*27,g.3627G>T|CYP2C9*8,c.449G>A|CYP2C9*8,g.3627G>A" A/G H150 PharmGKB:PA126 rs7900194 hCV25625804 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GAGGACCGTGTTCAAGAGGAAGCCC[A/G]CTGCCTTGTGGAGGAGTTGAGAAAA 96702066 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.04 0 0 Homo sapiens C_25625804D_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*27,c.449G>T|CYP2C9*27,g.3627G>T|CYP2C9*8,c.449G>A|CYP2C9*8,g.3627G>A" T/G H150 PharmGKB:PA126 rs7900194 hCV25625804 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GAGGACCGTGTTCAAGAGGAAGCCC[T/G]CTGCCTTGTGGAGGAGTTGAGAAAA 96702066 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.04 0 0 Homo sapiens C__72649995_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*15,g.9100C>A " A/C X162 PharmGKB:PA126 rs72558190 hCV72649995 Nonsense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TAAATTGTTTCTAATTATTTAGCCT[A/C]ACCCTGTGATCCCACTTTCATCCTG 96707539 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__27859816_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 G/T V208 PharmGKB:PA126 rs72558191 hCV27859816 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 AAAGTTGAATGAAAACATCAAGATT[G/T]TGAGCAGCCCCTGGATCCAGGTAAG 96707676 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C___1329179_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*9,c.752A>G|CYP2C9*9,g.10535A>G" A/G R251 PharmGKB:PA126 rs2256871 hCV1329179 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TATATTTTGGAAAAAGTAAAAGAAC[A/G]CCAAGAATCAATGGACATGAACAAC 96708974 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0 0.13 0 0 Homo sapiens C__30634137_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*10,c.815A>G|CYP2C9*10,g.10598A>G" G/A G272 PharmGKB:PA126 rs9332130 hCV30634137 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 ATTGATTGCTTCCTGATGAAAATGG[G/A]GAAGGTAAAATGTAAACAAAAGCTT 96709037 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__32287221_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*6,c.818delA|CYP2C9*6,g.10601delA" -/A PharmGKB:PA126 hCV32287221 "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GATTGCTTCCTGATGAAAATGGAGA[-/A]GGTAAAATGTAAACAAAAGCTTAGT 96709040 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__31983377_40 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 A/C L312 PharmGKB:PA126 rs9332173 hCV31983377 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 CAACCCTGAGATATGCTCTCCTTCT[A/C]CTGCTGAAGCACCCAGAGGTCACAG 96731977 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__30634132_70 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*11A,c.1003C>T|CYP2C9*11A,g.42542C>T|CYP2C9*11B,c.1003C>T|CYP2C9*11B,g.42542C>T" T/C W335 PharmGKB:PA126 rs28371685 hCV30634132 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GATTGAACGTGTGATTGGCAGAAAC[T/C]GGAGCCCCTGCATGCAAGACAGGAG 96740981 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.01 0 0 Homo sapiens C__27104892_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*18,c.1075A>C|CYP2C9*18,g.42614A>C|CYP2C9*3A,c.1075A>C|CYP2C9*3A,g.42614A>C|CYP2C9*3B,c.1075A>C|CYP2C9*3B,g.42614A>C" C/A L359 PharmGKB:PA126 rs1057910 hCV27104892 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TGTGGTGCACGAGGTCCAGAGATAC[C/A]TTGACCTTCTCCCCACCAGCCTGCC 96741053 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.1 0.02 0.06 0.01 Homo sapiens C__27859817_40 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*5,c.1080C>G|CYP2C9*5,g.42619C>G" C/G E360 PharmGKB:PA126 rs28371686 hCV27859817 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TGCACGAGGTCCAGAGATACATTGA[C/G]CTTCTCCCCACCAGCCTGCCCCATG 96741058 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.03 0 0 Homo sapiens C__34328317_30 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 A/T L395 PharmGKB:PA126 rs17847032 hCV34328317 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TATTAATTTCCCTGACTTCTGTGCT[A/T]CATGACAACAAAGAATTTCCCAACC 96745825 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__63579063_10 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9,g.47439T>C" C/T P413 PharmGKB:PA126 rs28371687 hCV63579063 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GAGATGTTTGACCCTCATCACTTTC[C/T]GGATGAAGGTGGCAATTTTAAGAAA 96745878 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__27104786_50 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 C/T A441 PharmGKB:PA126 rs2017319 hCV27104786 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GGATTTGTGTGGGAGAAGCCCTGGC[C/T]GGCATGGAGCTGTTTTTATTCCTGA 96748635 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.1 0 0 Homo sapiens C__27104783_30 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*18,c.1425A>T|CYP2C9*18,g.50298A>T" A/T G475 PharmGKB:PA126 rs1057911 hCV27104783 Silent Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 TTGACACCACTCCAGTTGTCAATGG[A/T]TTTGCCTCTGTGCCGCCCTTCTACC 96748737 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.1 0.02 0.06 0.01 Homo sapiens C__30634125_20 CYP2C9 CPC9|CYP2C|CYP2C10|CYPIIC9|MGC88320|P450IIC9|MGC149605|RP11-208C17.6 "CYP2C9*12,c.1465C>T|CYP2C9*12,g.50338C>T" C/T S489 PharmGKB:PA126 rs9332239 hCV30634125 Mis-sense Mutation "cytochrome P450, family 2, subfamily C, polypeptide 9" NM_000771 GCCCTTCTACCAGCTGTGCTTCATT[C/T]CTGTCTGAAGAAGAGCAGATGGCCT 96748777 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__33868779_10 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 -/CAA D461||| PharmGKB:PA125 rs3832694 hCV33868779 Amino Acid InDel||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 TAGTATTGAGGTTCTTTAAATCAT[-/CAA]CAGATTTCAGGTTAAAGTTCTGTA 96796974 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__27859815_10 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 C/G A404||| PharmGKB:PA125 rs66501115 hCV27859815 Mis-sense Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 AAGTGGCCAGGGTCAAAGATATTTG[C/G]ATTAGGAAATTCTTTGTCATCATGT 96798735 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0 0 0 0 Homo sapiens C__25625782_20 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*3,c.1196A>G|CYP2C8*3,g.30411A>G" C/T R399||| PharmGKB:PA125 rs10509681 hCV25625782 Mis-sense Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 AAAGATATTTGGATTAGGAAATTCT[C/T]TGTCATCATGTAGCACGGAAGTCAG 96798749 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0.14 0.02 0 0 Homo sapiens C__31658203_20 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 A/G H353||| PharmGKB:PA125 rs11188150 hCV31658203 Silent Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 CAAGGTCACTGTATCTCTGGATCTC[A/G]TGCACTACAGCATCAGTGTAAGGCA 96802737 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0.01 Homo sapiens C__30634034_10 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*2,c.805A>T|CYP2C8*2,g.11054A>T" A/T F269||| PharmGKB:PA125 rs11572103 hCV30634034 Mis-sense Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 TAATATCTTACCTGCTCCATTTTGA[A/T]CAGGAAGCAATCGATAAAGTCCCGA 96818106 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.01 0.11 0 0 Homo sapiens C__25761568_20 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*4,c.792C>G|CYP2C8*4,g.11041C>G" C/G M264||| PharmGKB:PA125 rs1058930 hCV25761568 Mis-sense Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 GCTCCATTTTGATCAGGAAGCAATC[C/G]ATAAAGTCCCGAGGATTGTTAACAT 96818119 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0.04 0.01 0 0 Homo sapiens C__31658144_30 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8,c.730A>G|CYP2C8,g.10979A>G" C/T V244||| PharmGKB:PA125 rs11572102 hCV31658144 Mis-sense Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 TGGTGTTCTTTTACTTTCTCCCTAA[C/T]GTAACTTCGTGTAAGAGCAACATTT 96818181 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C_72650009D_20 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*7,c.556C>T|CYP2C8*7,g.4517C>T|CYP2C8*8,c.556C>G|CYP2C8*8,g.4517C>G|CYP2C8*8,g.556C>G,4517C>G" G/C ||| PharmGKB:PA125 rs72558195 hCV72650009 ||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 AAATTCTGATCTTTATAATCAAATC[G/C]TTTCTGGAAAACAACGGAGCAGATC 96824643 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C_72650009C_10 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*7,c.556C>T|CYP2C8*7,g.4517C>T|CYP2C8*8,c.556C>G|CYP2C8*8,g.4517C>G|CYP2C8*8,g.556C>G,4517C>G" G/A ||| PharmGKB:PA125 rs72558195 hCV72650009 ||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 AAATTCTGATCTTTATAATCAAATC[G/A]TTTCTGGAAAACAACGGAGCAGATC 96824643 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__25625793_10 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 C/T K160||| PharmGKB:PA125 rs11572081 hCV25625793 Silent Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 ATGACGCAGAGTAGAGTCACCCACC[C/T]TTGGTTTTTCTCAACTCCTCCACAA 96826966 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0.18 0 0 Homo sapiens C__32287209_40 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*5,c.475delA|CYP2C8*5,g.2189delA" T/- ||| PharmGKB:PA125 rs72558196 hCV32287209 Frame Shift InDel||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 AGAGTAGAGTCACCCACCCTTGGTT[T/-]TTCTCAACTCCTCCACAAGGCAGTG 96826971 NCBI Build 37.1 Human "10q23.33d,10q23.33" 10 0 0 0 0 Homo sapiens C__25625794_10 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*3,c.416G>A|CYP2C8*3,g.2130G>A" C/T K139||| PharmGKB:PA125 rs11572080 hCV25625794 Mis-sense Mutation||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 CTCTTGAACACGGTCCTCAATGCTC[C/T]TCTTCCCCATCCCAAAATTCCGCAA 96827030 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0.14 0.02 0 0 Homo sapiens C___1980090_20 CYP2C8 CPC8|CYPIIC8|MP-12/MP-20 "CYP2C8*1C,g.-370T>G" A/C ||| PharmGKB:PA125 rs17110453 hCV1980090 ||| "cytochrome P450, family 2, subfamily C, polypeptide 8" NM_000770|NM_001198853|NM_001198854|NM_001198855 TTCTCAGATTAATGACCAGTTGGGA[A/C]TTTATGACCTTGAGGGAAATCAGTG 96829529 NCBI Build 37.1 Human "10q23.33,10q23.33d" 10 0.13 0.02 0.24 0.42 Homo sapiens C___8393505_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/C F995| PharmGKB:PA145 rs1801268 hCV8393505 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 TTGATGCAGTCGACAATAGGGCAAA[A/C]ACTGAGACACAGAGTACAGCCTGTA 97544627 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__32557035_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T R978| PharmGKB:PA145 rs72547601 hCV32557035 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 ACAAGTGTCGGTTATGGTGGGCAGG[C/T]GGGTTTCTGGATCAAACTGTATAGC 97544677 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__27861861_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/T V974| PharmGKB:PA145 rs72547602 hCV27861861 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 TATGGTGGGCAGGTGGGTTTCTGGA[A/T]CAAACTGTATAGCCTGCAAACAGAA 97544689 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__27530948_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/T V949| PharmGKB:PA145 rs67376798 hCV27530948 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 ACCACAGTTGATACACATTTCTTCA[A/T]CAATCATAGCCACAACTTGCTCTAC 97547947 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C___8393589_30 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T | PharmGKB:PA145 rs1801267 hCV8393589 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 CTTGTTTTCTGCTATGATTTTCTTG[C/T]GCTGTTCCAGATAAGGTCCAAAACT 97564154 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__25596127_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T R861| PharmGKB:PA145 rs60139309 hCV25596127 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AGCTATACGTGGAACTGGTTTCCCT[C/T]TCTGGTGACTCACAGTAGCTGGACT 97658665 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.01 0 0 0 Homo sapiens C__25596116_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/A G732| PharmGKB:PA145 rs60511679 hCV25596116 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 ACCTGAGACAGTGTTGGTGGCTGTA[C/A]CGCCATTGGCACCACCTATGCAAGA 97770919 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0.01 0 0 Homo sapiens C__11372171_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T | PharmGKB:PA145 rs1801160 hCV11372171 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 CCTGAGACAGTGTTGGTGGCTGTAA[C/T]GCCATTGGCACCACCTATGCAAGAC 97770920 NCBI Build 37.1 Human "1p21.3,1p21.3b" 1 0.07 0.03 0.02 0.01 Homo sapiens C__30633851_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T | PharmGKB:PA145 rs3918290 hCV30633851 Intron| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 TGTTTTAGATGTTAAATCACACTTA[C/T]GTTGTCTGGAAAGTCAGCCTTTAGT 97915614 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.03 0 0 0 Homo sapiens C__25471727_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G | PharmGKB:PA145 rs17376848 hCV25471727 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 GTTAAATCACACTTACGTTGTCTGG[A/G]AAGTCAGCCTTTAGTTCAGTGACAC 97915624 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.04 0.02 0.11 0.1 Homo sapiens C__11985548_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/C S560| PharmGKB:PA145 rs55886062 hCV11985548 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 CCATCCAGCTTCAAAAGCTCTTCGA[A/C]TCATTGATGTGCTGGTGGCTGGAGT 97981343 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C___1823316_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T | PharmGKB:PA145 rs1801159 hCV1823316 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 GCGCTAGCAAGACCAAAAGGATTTA[C/T]AAACTTCAATCCGGCCATTTCTACA 97981395 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.16 0.21 0.31 0.25 Homo sapiens C___8383855_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T N534| PharmGKB:PA145 rs1801158 hCV8383855 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AAACTTCAATCCGGCCATTTCTACA[C/T]TAATGTCCACCAGATCAATAGGAGT 97981421 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.03 0 0 0 Homo sapiens C__32294338_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G L492| PharmGKB:PA145 rs72549304 hCV32294338 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AGAAGCTTGCTTTCCATCATTCACC[A/G]ATTCCACTGTAGTGTTAGCCAAACC 98015165 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__25596106_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G N457| PharmGKB:PA145 rs57918000 hCV25596106 Silent Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 GATCTACTTCTGGGAGACCCCATCT[A/G]TTAAATTTTATAGGGCTCAAGGCTT 98015269 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0.01 0 0 Homo sapiens C__25596098_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T | PharmGKB:PA145 rs61622928 hCV25596098 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 CATCTTGCTCTGTCCGAACAAACTG[C/T]ATAGCAACAATTCTCCCACCTTTTA 98039437 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0.06 0 0 Homo sapiens C__32520222_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T V370| PharmGKB:PA145 rs72549305 hCV32520222 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 TTTACCTCCTCAGGGACAGCTCTTA[C/T]ATTAACAAAGCCTTTTCTGAAGACG 98058794 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__30633853_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/T R358| PharmGKB:PA145 rs1042479 hCV30633853 Silent Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AGCCTTTTCTGAAGACGATGAACAC[A/T]CGGCGAGCTCCACAACGTAGAGCAG 98058828 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__30633854_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G F345| PharmGKB:PA145 rs1042478 hCV30633854 Silent Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AACGTAGAGCAGATGTTGCACAGTC[A/G]AAGGCAGTGTCTCCAGCTCCAAGTA 98058867 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__32294341_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/C L335| PharmGKB:PA145 rs72549306 hCV32294341 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 GTGTCTCCAGCTCCAAGTACAATCA[A/C]GACTCCCCGTATCGATGGCAATGGA 98058899 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__32558123_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T E259| PharmGKB:PA145 rs45589337 hCV32558123 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 GTCATTTCATTCACTGAAAGGCTTT[C/T]ACCGCAAATTATCTATAAGAAACAA 98144726 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.01 0 0 0 Homo sapiens C__28983106_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G G252| PharmGKB:PA145 rs6675198 hCV28983106 Silent Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AGGTGTTTTTTTCATTTACCTTTAC[A/G]CCAAGGTCCTTCATTAGCTCAATCT 98157279 NCBI Build 37.1 Human "1p21.3,1p21.3b" 1 0 0 0 0 Homo sapiens C___8393861_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G W235| PharmGKB:PA145 rs1801266 hCV8393861 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AAATTCACTACATCATACGGCAGCC[A/G]GAACTGAGGAATTTCAGAAGTACTG 98157332 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__32296328_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T C211| PharmGKB:PA145 rs72549307 hCV32296328 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 TTTTTCAAATATAGTGATGTCAGAG[C/T]ACCCCAATCGAGCCAAAAAGGAAGC 98164955 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__27859852_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 G/T R201| PharmGKB:PA145 rs72549308 hCV27859852 Mis-sense Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 AATCGAGCCAAAAAGGAAGCACAAC[G/T]TATACTTGCAGGCCCAGCACCAAAA 98164986 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__28983108_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T S175| PharmGKB:PA145 rs6670886 hCV28983108 Silent Mutation| dihydropyrimidine dehydrogenase NM_000110|NM_001160301 CAGACATTTTTTCTGGGGGAGGCAG[C/T]GAAGGATTTCTGATCTGTGGGATAC 98165062 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C__16187014_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 C/T | PharmGKB:PA145 rs2297595 hCV16187014 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 GGATTTCTGATCTGTGGGATACTCA[C/T]TGCTTTGAATACCTACGGGGAAATC 98165091 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.09 0.02 0.01 0.01 Homo sapiens C__32287186_20 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 -/ATGA | PharmGKB:PA145 hCV32287186 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 CTTGTTTGCAATACTTGTGATGA[-/ATGA]TTTAATATCAAGATTAGTTGGACA 98205971 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C___9491497_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G | PharmGKB:PA145 rs1801265 hCV9491497 | dihydropyrimidine dehydrogenase NM_000110|NM_001160301 TCTAATTTCTTGGCCGAAGTGGAAC[A/G]CAGAGTTGCATGAGTTTGTGTTCGA 98348885 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0.21 0.34 0.03 0.14 Homo sapiens C__32558154_10 DPYD DHP|DPD|DHPDHASE|MGC70799|MGC132008 A/G X21|X21 PharmGKB:PA145 rs72549310 hCV32558154 Nonsense Mutation|Nonsense Mutation dihydropyrimidine dehydrogenase NM_000110|NM_001160301 CGCAGAGTTGCATGAGTTTGTGTTC[A/G]AGGATTTAAAGCCAGGATACTCTAA 98348909 NCBI Build 37.1 Human "1p21.3b,1p21.3" 1 0 0 0 0 Homo sapiens C___8303531_40 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*10,g.31611C>T|CYP3A5*1D,g.31611C>T|CYP3A5*3A,g.31611C>T|CYP3A5*3B,g.31611C>T|CYP3A5*3E,g.31611C>T|CYP3A5*3F,g.31611C>T|CYP3A5*3G,g.31611C>T|CYP3A5*3H,g.31611C>T|CYP3A5*3I,g.31611C>T|CYP3A5*3J,g.31611C>T" A/G | PharmGKB:PA131 rs15524 hCV8303531 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 AGCTTTCTTGAAGACCAAAGTAGAA[A/G]TCCTTAGAATAACTCATTCTCCACT 99245914 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.02 0.43 0.34 0.38 Homo sapiens C__30633859_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*3F,g.31551T>C" A/G | PharmGKB:PA131 rs28365085 hCV30633859 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 ATCTCTTGAATCCACCTTTAGAACA[A/G]TGGGTTTTTCTGGTTGAAGAAGTCC 99245974 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.01 0 Homo sapiens C__30633860_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*3J,g.29782A>G" C/T | PharmGKB:PA131 hCV30633860 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 AAGGAGAAGTTCTGAAGGACTCTGA[C/T]TAGAGCAAGTTTCATGTTCATGAGA 99247743 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30633861_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*10,g.29753T>C" A/G | PharmGKB:PA131 rs41279854 hCV30633861 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 AGCAAGTTTCATGTTCATGAGAGCA[A/G]ACCTCATGCCAATGCAGTTTCTGGG 99247772 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816045_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.27526C>T" A/G | PharmGKB:PA131 rs6976017 hCV34816045 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TGTGCTGGGACTGTGGATGGATGTA[A/G]TTTCGTTTTTTCTAGTCTGTGGTTT 99249999 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.01 0.16 0.02 0.03 Homo sapiens C__34816046_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.27448C>A" G/T | PharmGKB:PA131 rs72552789 hCV34816046 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 GTGATAAAAAGACTTACAAGCAAAT[G/T]ATTGTACAACCACACGATTGTCATG 99250077 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30633862_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*2,g.27289C>A" G/T | PharmGKB:PA131 rs28365083 hCV30633862 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 CTTTGGGTCATGGTGAAGAGCATAA[G/T]TTGGAATCACCACCATTGACCCTTT 99250236 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.01 0 Homo sapiens C__32287188_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*7,g.27131_27132insT" A/- | PharmGKB:PA131 rs41303343 hCV32287188 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 CCATCTGTACCACGGCATCATAGGT[A/-]AGGTGGTGCCTGGAAGGAAAGAAAC 99250394 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.15 0 0 Homo sapiens C__25592955_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*3E,g.27050A>G" C/T | PharmGKB:PA131 rs28365094 hCV25592955 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TCTCAACTGAGTCCATGCAGTACTA[C/T]TGAAGTATTAGAAGCTCCAGAGAAT 99250475 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.12 0.02 0 0 Homo sapiens C__30633863_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*9,g.19386G>A" C/T | PharmGKB:PA131 rs28383479 hCV30633863 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 CCCCTCACCTTATTGGGCAAAACTG[C/T]ATCAATCTCCTTTTGCAGTTTCTGC 99258139 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816048_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*1E,g.17163G>T" A/C | PharmGKB:PA131 rs4646453 hCV34816048 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 CAAAAATTCTCATCTTCCTGGAATA[A/C]TTCCTGCACATTTTCAGAACAAGGC 99260362 NCBI Build 37.1 Human "7q22.1,7q22.1b" 7 0.01 0.07 0.21 0.34 Homo sapiens C__59013121_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.17052C>G" C/G | PharmGKB:PA131 rs28383477 hCV59013121 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 ACTCAGTTTCTTTCGAATTCTGGGA[C/G]TCAATCATCAGCTGAAGGAAATCTA 99260473 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816049_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.16993C>G" C/G | PharmGKB:PA131 rs58708491 hCV34816049 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TAGAAGCAAAAGGAGAGATTTCTTT[C/G]GCAGAAAGTGACTCGTGAAGTCAGA 99260532 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.02 0 Homo sapiens C__34816050_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*3I,g.16903A>G" C/T | PharmGKB:PA131 rs72552790 hCV34816050 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TTCCCTCCCTCAACCTCCCTATGGC[C/T]TCTTGAAGACGTGTTACCTGAGTCA 99260622 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30203950_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*6,g.14690G>A" C/T | PharmGKB:PA131 rs10264272 hCV30203950 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 CTAAGAAACCAAATTTTAGGAACTT[C/T]TTAGTGCTCTCCACAAAGGGGTCTT 99262835 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.09 0 0 Homo sapiens C__30633864_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*4,g.14665A>G" C/T | PharmGKB:PA131 rs56411402 hCV30633864 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 CTTAGTGCTCTCCACAAAGGGGTCT[C/T]GTGGATTGTTGAGAGAGTCGATGTT 99262860 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816052_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.13173T>C" A/G | PharmGKB:PA131 rs68178885 hCV34816052 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 GATCAGTACCTGTAGTTAAATGTGC[A/G]GACTCAAGTCCCAGAAGGATATGGC 99264352 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816054_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.13077T>G" A/C | PharmGKB:PA131 rs41258414 hCV34816054 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TGATGTCTTTTCTGTACATAAAGAT[A/C]AAAGACCATTTTTAGGAAGCTCGAA 99264448 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30633867_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*3G,g.12952T>C|CYP3A5*5,g.12952T>C" A/G | PharmGKB:PA131 rs55965422 hCV30633867 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TAATTAAGACTCATCTTATTTTCAT[A/G]CCTCCTTGAGTTTTCCGCTGGTGAA 99264573 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0.01 Homo sapiens C__30633869_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.7303C>A" G/T | PharmGKB:PA131 rs41279857 hCV30633869 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 GCTTACCCTTCGATTTGTGAAGACA[G/T]AATAACATTCTTTCACTAGCACTGT 99270222 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30633870_50 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*3D,g.7249T>G" A/C | PharmGKB:PA131 rs56244447 hCV30633870 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 GATCACGTCGGGATCTGTGATGGCC[A/C]GCACAGGGAGTTGACCTTCATACGT 99270276 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30168116_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.7182C>A" G/T | PharmGKB:PA131 rs8175346 hCV30168116 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 GGAGCTGATTAAACTTCACTAGCCC[G/T]ATTCTGCAGCTGGAGCCACACCCAG 99270343 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__26201809_30 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*10,g.6986A>G|CYP3A5*11,g.6986A>G|CYP3A5*3A,g.6986A>G|CYP3A5*3B,g.6986A>G|CYP3A5*3C,g.6986A>G|CYP3A5*3D,g.6986A>G|CYP3A5*3E,g.6986A>G|CYP3A5*3F,g.6986A>G|CYP3A5*3G,g.6986A>G|CYP3A5*3H,g.6986A>G|CYP3A5*3I,g.6986A>G|CYP3A5*3J,g.6986A>G" T/C | PharmGKB:PA131 rs776746 hCV26201809 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 ATGTGGTCCAAACAGGGAAGAGATA[T/C]TGAAAGACAAAAGAGCTCTTTAAAG 99270539 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.01 0.31 0.26 0.37 Homo sapiens C__34816055_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.5215C>T" A/G | PharmGKB:PA131 rs28365067 hCV34816055 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 AGTTGCGTCCAATGAAATCAGGCCT[A/G]CTATCTTTCACTGGCAGTTGAAGGA 99272310 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.06 0.01 0.02 0.03 Homo sapiens C__30633871_50 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*3B,g.3705C>T" G/A | PharmGKB:PA131 rs28383468 hCV30633871 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 ATTCCCAGTCTCTTAAAAAGTCCAT[G/A]TGTACGGGTCCCATATCTACAAAGT 99273815 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.01 0 0 0 Homo sapiens C__30633872_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*8,g.3699C>T" A/G | PharmGKB:PA131 rs55817950 hCV30633872 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 AGTCTCTTAAAAAGTCCATGTGTAC[A/G]GGTCCCATATCTACAAAGTGAAACA 99273821 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C___7732401_60 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*1C,g.-74C>T" A/G | PharmGKB:PA131 rs28371764 hCV7732401 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 AGTGCTGCTGTTTGCTGGGCTGTTT[A/G]CCTGGAGCTTCCCTGCCCTGCACAG 99277593 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.05 0.01 0 0 Homo sapiens C__27841723_10 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5*1B,g.-86G>A" C/T | PharmGKB:PA131 rs28365095 hCV27841723 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TGCTGGGCTGTTTGCCTGGAGCTTC[C/T]CTGCCCTGCACAGCAGTCTTCAGCC 99277605 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.03 0 0 0.01 Homo sapiens C__27521951_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.-795T>A" A/T | PharmGKB:PA131 rs3823812 hCV27521951 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TCCCCTCTGACTCTGTGGTGATAGC[A/T]ATAGACTAATGGTTGCTTGGGACTC 99278314 NCBI Build 37.1 Human "7q22.1,7q22.1b" 7 0.01 0.07 0.23 0.33 Homo sapiens C__26201810_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.-1617T>C" A/G | PharmGKB:PA131 rs776741 hCV26201810 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 GGATAAAAACCATTTTAGCTGGGGT[A/G]AGATGATATCTCATTGTGGTTTTGA 99279136 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.01 0.33 0.23 0.33 Homo sapiens C__34816056_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.-3557T>C" A/G | PharmGKB:PA131 rs72552792 hCV34816056 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TCTATCTAGAAGGGTATGAATATAC[A/G]TGGATACATCCATTTTAATCTAATT 99281076 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816057_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.-3844G>A" C/T | PharmGKB:PA131 rs57830676 hCV34816057 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TTTTCTCTGCTTGCTTGGACTCCCA[C/T]ACACAGGCCGGGCTGTTTCTCCACG 99281363 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.06 0.16 0.02 0.03 Homo sapiens C__34816058_20 CYP3A5 CP35|PCN3|CYPIIIA5|FLJ31317|P450PCN3|DKFZp686L16231 "CYP3A5,g.-4336G>A" C/T | PharmGKB:PA131 rs61673930 hCV34816058 | "cytochrome P450, family 3, subfamily A, polypeptide 5" NM_000777|NM_001190484 TCACCCAGGCTGGAGTGTAATGGTG[C/T]GTCTCGGCTCACTGCAACCTCTGCC 99281855 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.01 0 0 Homo sapiens C__25474551_10 CYP3A7 CP37|P450-HFLA "CYP3A7*2,c.1226C>G|CYP3A7*2,g.26041C>G" C/G T409 PharmGKB:PA122 rs2257401 hCV25474551 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 7" NM_000765 TTCAGGGAGGAACTTCTCAGGCTCT[C/G]TCCAGTACTTTGGGTCATGATGAAG 99306685 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.06 0.48 0.25 0.36 Homo sapiens C__25648377_10 CYP3A7 CP37|P450-HFLA G/T R310M PharmGKB:PA122 rs61737520 hCV25648377 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 7" NM_000765 TATAATGAAGGAGAGAACACTGCTC[G/T]TGGTTTCATAGCCAGCAAAAATAAA 99308452 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30633874_10 CYP3A7 CP37|P450-HFLA "CYP3A7*1E,c.-49G>A|CYP3A7*1E,g.-49G>A" C/T PharmGKB:PA122 rs28451617 hCV30633874 UTR 5 "cytochrome P450, family 3, subfamily A, polypeptide 7" NM_000765 CTCCTCTGAGTCTTTTTTTCAGCAG[C/T]GTGCTGCTGTTTGCTGGGCTGTGTG 99332765 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.07 0 0 Homo sapiens C__30634320_10 CYP3A7 CP37|P450-HFLA "CYP3A7*1C,g.-232A>C" G/T PharmGKB:PA122 rs45446698 hCV30634320 "cytochrome P450, family 3, subfamily A, polypeptide 7" NM_000765 CTTCTCCACCTCGGCAGTTGGCAAA[G/T]AATCACACACACACCACTCACTGAC 99332948 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634321_20 CYP3A7 CP37|P450-HFLA "CYP3A7*1C,g.-262T>A" A/T PharmGKB:PA122 rs11568826 hCV30634321 "cytochrome P450, family 3, subfamily A, polypeptide 7" NM_000765 ACACACACACCACTCACTGACCTCC[A/T]TTGAGTTAATATTCTATGTAGAATC 99332978 NCBI Build 37.1 Human "7q22.1,7q22.1b" 7 0 0 0 0 Homo sapiens C__30634326_10 CYP3A7 CP37|P450-HFLA "CYP3A7*1C,g.-291G>T" A/C PharmGKB:PA122 rs11568824 hCV30634326 "cytochrome P450, family 3, subfamily A, polypeptide 7" NM_000765 AGTTAATATTCTATGTAGAATCATA[A/C]ACAACTCAATCAATGTTACTGGGGA 99333007 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634327_10 CYP3A7 CP37|P450-HFLA "CYP3A7*1B,g.-314C>T" A/G PharmGKB:PA122 rs45465393 hCV30634327 "cytochrome P450, family 3, subfamily A, polypeptide 7" NM_000765 TACACAACTCAATCAATGTTACTGG[A/G]GAGTCCAAGGGTTCTGGGTTCTTAT 99333030 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.01 0 0 0 Homo sapiens C__25610823_20 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/T S616 PharmGKB:PA323 rs8187840 hCV25610823 Silent Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 TCAGCAGCCATCCTGCCTGAAGCAC[C/T]GACTTCATGTTGGAAGGAGCCTGAG 99338531 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0.01 0 0 0 Homo sapiens C__25610833_30 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/G S537 PharmGKB:PA323 rs8187830 hCV25610833 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GTATTGAAATTAGGTTGACATTGTG[A/G]CGGAATCTCTGTTGAGCTTATTGTG 99340576 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0 0 Homo sapiens C__25472063_20 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/G N509 PharmGKB:PA323 rs8187832 hCV25472063 Silent Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 ATGTGCTGGCATTGTAGCTGCTGAT[A/G]TTTGCATAAACTTTCCCACTCATTG 99340771 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0.05 0.21 0 0 Homo sapiens C__34816059_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1H,g.26206C>A" G/T PharmGKB:PA130 rs59715127 hCV34816059 UTR 3 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 AGGAGGAGTTAATGGTGCTAACTGG[G/T]GGTGGTGGAAATAGTCCCGTGAGAA 99355490 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.02 0 Homo sapiens C__34816060_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1T,g.26013T>C" A/G PharmGKB:PA130 rs72552794 hCV34816060 UTR 3 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 ATCTTCATTTCAGAGTTCTATTCAC[A/G]AAGTAATTTGAGGTCTCTGGTGTTC 99355683 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__25610841_20 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/G A467T PharmGKB:PA323 rs62637593 hCV25610841 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 ACACTTACCACCTGGTAGTGATTGG[A/G]GGCCCACACTAGAAGCGTGTGGCGT 99356560 NCBI Build 37.1 Human "13q32.3,13q32.3a" 13 0 0 0 0 Homo sapiens C__11697955_30 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/G C459 PharmGKB:PA323 rs2274827 hCV11697955 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GGGGCCCACACTAGAAGCGTGTGGC[A/G]TTGGCCCTGCTTGAAGTCGTCAGTT 99356584 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0.03 0.03 Homo sapiens C__30568808_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 G/T N451 PharmGKB:PA323 rs8187838 hCV30568808 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GCGTTGGCCCTGCTTGAAGTCGTCA[G/T]TTACAGCAGTGACTGGTGATCCAGG 99356607 NCBI Build 37.1 Human "13q32.3,13q32.3a" 13 0.02 0 0 0 Homo sapiens C__33441043_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 -/A S441F PharmGKB:PA323 rs72547504 hCV33441043 Frame Shift InDel "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GCAGTGACTGGTGATCCAGGAGAAG[-/A]AAATGTTTATCCTTGTCAGTTTGTT 99356638 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0 0 Homo sapiens C___2728575_30 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/G A419 PharmGKB:PA323 rs4646227 hCV2728575 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 CCTTCTACTTACTTGAGACATTGGG[C/G]CAAGTGTCACCATCTCTCCAGGAAG 99358401 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0.05 0.13 0.02 0.09 Homo sapiens C__27540170_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*19,c.1399 C>T|CYP3A4*19,c.1399C>T|CYP3A4*19,g.23237C>T" A/G S467 PharmGKB:PA130 rs4986913 hCV27540170 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TGACTAACCTGTGTTTCTTTACAAG[A/G]TTTGAAGGAGAAGTTCTGAAGGACT 99358459 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__32787134_50 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 -/G S464S PharmGKB:PA130 rs72552795 hCV32787134 Frame Shift InDel "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CCTGTGTTTCTTTACAAGGTTTGAA[-/G]GGAGAAGTTCTGAAGGACTCTGATT 99358466 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__25610851_20 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/G N393 PharmGKB:PA323 rs8187836 hCV25610851 Silent Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 TATTCAAAACTTTAATTTGGACTTC[A/G]TTTCCTTTGGGGAAGACTGGAAGAG 99358478 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0.02 0 0 Homo sapiens C__27535825_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*3,c.1334T>C" A/G T445 PharmGKB:PA130 rs4986910 hCV27535825 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TTTCATGTTCATGAGAGCAAACCTC[A/G]TGCCAATGCAGTTTCTGGGTCCACT 99358524 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.01 0 0 Homo sapiens C__30634201_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4,g.23130T>C" A/G T431 PharmGKB:PA130 rs1041988 hCV30634201 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GGGTCCACTTCCAAAGGGTGTGTAT[A/G]TGTAAGGATCTATGTTGTCCTTGTT 99358566 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__29554474_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*13,c.1247 C>T|CYP3A4*13,c.1247C>T|CYP3A4*13,g.22026C>T" A/G L416 PharmGKB:PA130 rs4986909 hCV29554474 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CTTCCCAGGGGCCTTGTACCTTTCA[A/G]GGAGGAACTTCTCAGGCTCTGTCCA 99359670 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634202_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*12,c.1117 C>T|CYP3A4*12,c.1117C>T|CYP3A4*12,g.21896C>T" A/G F373 PharmGKB:PA130 rs12721629 hCV30634202 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 ACATCTTTTTTGCAGACCCTCTCAA[A/G]TCTCATAGCAATTGGGAATAATCTG 99359800 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634203_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*11,c.1088 C>T|CYP3A4*11,c.1088C>T|CYP3A4*11,g.21867C>T" A/G M363 PharmGKB:PA130 rs67784355 hCV30634203 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CATAGCAATTGGGAATAATCTGAGC[A/G]TTTCATTCACCACCATGTCAAGATA 99359829 NCBI Build 37.1 Human "7q22.1,7q22.1b" 7 0 0 0 0 Homo sapiens C__30329860_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 G/T N349 PharmGKB:PA130 rs10250778 hCV30329860 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GTCAAGATACTCCATCTGTAGCACA[G/T]TATCATAGGTGGGTGGTGCCTGGAA 99359871 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__26560191_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/T N383 PharmGKB:PA323 rs1782674 hCV26560191 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GGGAGAACCAGGGGACAACTCACAT[C/T]GATTTCCACCTGCACGATGGCAGCC 99360942 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0 0 Homo sapiens C__26201900_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*16B,g.20230G>A|CYP3A4*18B,g.20230G>A|CYP3A4*19,g.20230G>A|CYP3A4*1G,g.20230G>A|CYP3A4*1H,g.20230G>A" C/T PharmGKB:PA130 rs2242480 hCV26201900 Intron "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CACCTCCTCCCTCCTTCTCCATGTA[C/T]CATCCACTCACCTTATTGGGTAAAA 99361466 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.06 0.28 0.25 0.37 Homo sapiens C__27859823_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*18A,c.878T>C|CYP3A4*18A,g.20070T>C|CYP3A4*18B,c.878T>C|CYP3A4*18B,g.20070T>C" A/G P293 PharmGKB:PA130 rs28371759 hCV27859823 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GATAATTGATTGGGCCACGAGCTCC[A/G]GATCGGACAGAGCTGAAAGGAGAGG 99361626 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.02 0.04 Homo sapiens C__32287189_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 -/T PharmGKB:PA130 hCV32287189 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CTCAGTTTCTTTTGAATTCTGAGAG[-/T]CAATCATCAGCTGAAGGAAATCCAC 99364035 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__32787140_40 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*6,c.830_831insA" T/- E277D PharmGKB:PA130 rs4646438 hCV32787140 Frame Shift InDel "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CTCAGTTTCTTTTGAATTCTGAGAG[T/-]TCAATCATCAGCTGAAGGAAATCCA 99364035 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__29595027_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/T PharmGKB:PA323 rs8187812 hCV29595027 "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GTGGAATATACAGGAACATCACCCT[C/T]GTAACCATCTTAATTTGGGAGATGA 99364165 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0.01 0 Homo sapiens C__27469996_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4,g.16898T>G" A/C A252 PharmGKB:PA130 rs3208363 hCV27469996 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CGACTTTCTTTCATCCTTTTTACAG[A/C]TTTTCTTAAAAAATTTGTAACTTCT 99364798 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816061_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1R,g.16775A>G" C/T PharmGKB:PA130 rs56997749 hCV34816061 Intron "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 AAACAAAAACAGAAAAAGAAATTCA[C/T]TGTGAATGTGCAAAATTTACCTGGA 99364921 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.01 0 Homo sapiens C__30634204_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*2,c.664T>C|CYP3A4*2,g.15713T>C" A/G P222 PharmGKB:PA130 rs55785340 hCV30634204 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GAAATAGTAGTCCACATACTTATTG[A/G]GAGAAAGAATGGATCCAAAAAATCA 99365983 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634205_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*5,c.653 C>G|CYP3A4*5,c.653C>G|CYP3A4*5,g.15702C>G" C/G R218 PharmGKB:PA130 rs55901263 hCV30634205 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CCACATACTTATTGAGAGAAAGAAT[C/G]GATCCAAAAAATCAAATCTTAAAAG 99365994 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30906472_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 A/G I193 PharmGKB:PA130 rs4987159 hCV30906472 Silent Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GGTCTTGTGGATTGTTGAGAGAGTC[A/G]ATGTTCACTCCAAATGATGTGCTAG 99366068 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.07 0 0 Homo sapiens C__27859822_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*17,c.566 T>C|CYP3A4*17,c.566T>C|CYP3A4*17,g.15615T>C" A/G S189 PharmGKB:PA130 rs4987161 hCV27859822 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GTTGAGAGAGTCGATGTTCACTCCA[A/G]ATGATGTGCTAGTGATCACATCCAT 99366081 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634207_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*16A,c.554C>G|CYP3A4*16A,g.15603C>G|CYP3A4*16B,c.554C>G|CYP3A4*16B,g.15603C>G" C/G S185 PharmGKB:PA130 rs12721627 hCV30634207 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GATGTTCACTCCAAATGATGTGCTA[C/G]TGATCACATCCATGCTGTAGGCCCC 99366093 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.01 0 Homo sapiens C__30634209_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*9,c.508 G>A|CYP3A4*9,c.508G>A|CYP3A4*9,g.14292G>A" C/T I170 PharmGKB:PA130 rs72552798 hCV30634209 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GCTTCTACTTACTCTTTCAAGGTGA[C/T]AGGCTTGCCTGTCTCTGCTTCCCGC 99367404 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__25644508_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*15A,c.485 G>A|CYP3A4*15A,c.485G>A|CYP3A4*15A,g.14269 G>A|CYP3A4*15A,g.14269G>A|CYP3A4*15B,c.485 G>A|CYP3A4*15B,c.485G>A|CYP3A4*15B,g.14269 G>A|CYP3A4*15B,g.14269G>A" C/T Q162 PharmGKB:PA130 rs4986907 hCV25644508 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 GACAGGCTTGCCTGTCTCTGCTTCC[C/T]GCCTCAGATTTCTCACCAACACATC 99367427 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.03 0 0 Homo sapiens C__34816064_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1N,g.14200T>G" A/C PharmGKB:PA130 rs68106838 hCV34816064 Intron "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 AGGGACCATCTAAGCACAAAACACA[A/C]CACCACCCATAGTTAAATGTGCAGA 99367496 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634211_30 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*4,c.352 A>G|CYP3A4*4,c.352A>G|CYP3A4*4,g.13871A>G" C/T V118 PharmGKB:PA130 rs55951658 hCV30634211 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CATTCTTCATCCTCAGCTATAGAGA[C/T]GGCACTTTTCATAAATCCCACTGGA 99367825 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30633964_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/G Y167 PharmGKB:PA323 rs3737087 hCV30633964 Silent Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GCAAACTTCCAGCATTAATAGCCAA[A/G]TAAAAGATGGAAAAAAATCTGTTTC 99373804 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0 0 Homo sapiens C__34816065_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1J,g.6077A>G" C/T PharmGKB:PA130 rs72552800 hCV34816065 Intron "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TCATCATAGAAACAAGTCTATCCAA[C/T]GGAAGTTTCCAGAATACTCACCCCC 99375629 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30634213_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*7,c.167 G>A|CYP3A4*7,c.167G>A|CYP3A4*7,g.6004G>A" C/T D56 PharmGKB:PA130 rs56324128 hCV30634213 Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 ACATTCCATGTCAAACATACAAAAG[C/T]CCTGGGAGGAGAAACAAAATAATAT 99375702 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__25610814_30 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/T M122 PharmGKB:PA323 rs8187820 hCV25610814 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GGGCAGCAGTGAGCACCAACTCACA[C/T]GTGCACAGGAAGGCTGTCGGGGGTG 99376167 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0.02 0 0 Homo sapiens C__25610813_20 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/T S86 PharmGKB:PA323 rs8187823 hCV25610813 Silent Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GTCCAATTGTGTAGACAATGGAGAG[C/T]GACACAATGGTCCTGTGTTTCCAAA 99376273 NCBI Build 37.1 Human "13q32.3,13q32.3a" 13 0 0 0 0 Homo sapiens C__30633966_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/T Y28 PharmGKB:PA323 rs8187817 hCV30633966 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GTTACCTCGCATTCCATAGTAGGAA[A/T]ATCTTTCGCAAAACTCATTGACCAC 99378642 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0 0 Homo sapiens C__30633967_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/T I21 PharmGKB:PA323 rs8187818 hCV30633967 Mis-sense Mutation "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GAAAATCTTTCGCAAAACTCATTGA[C/T]CACGATGAAGAAGATGCTCAGGGGA 99378664 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0.01 0 0 Homo sapiens C__30633968_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 C/G PharmGKB:PA323 rs8187819 hCV30633968 Intron "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 ACAAGCACAGGATTGAAATACACCC[C/G]CCACTGGTCCATAGCCACAAAGGAG 99378743 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0.01 0 0 Homo sapiens C___8303546_10 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 C/G PharmGKB:PA130 rs1041966 hCV8303546 UTR 5 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CACTACTTTCCTTACTTATCTCTCT[C/G]CTCTGAGTCTTCCTTTCAGCTCTGT 99381730 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30906488_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 A/T PharmGKB:PA130 rs12721632 hCV30906488 UTR 5 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TCCTTACTTATCTCTCTCCTCTGAG[A/T]CTTCCTTTCAGCTCTGTGTTGCTCT 99381738 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__30906489_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1D,g.-62C>A" G/T PharmGKB:PA130 rs12721636 hCV30906489 UTR 5 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TCCTTTCAGCTCTGTGTTGCTCTTT[G/T]CTGGGCTATGTGCATGGAGCTTTCC 99381766 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816066_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1M,g.-156C>A" G/T PharmGKB:PA130 rs59537101 hCV34816066 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TATGCTAGAGAAGGAGGCAGGGCTG[G/T]AGCTGCAGCCAGTAGCAGGGCCACC 99381860 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.05 0.02 Homo sapiens C__34816067_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1E,g.-369T>A" A/T PharmGKB:PA130 rs72552802 hCV34816067 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 AAACTCAAGTGGAGCCATTGGCATA[A/T]AATCTATTAAATCGCCTCTCTCCTG 99382073 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816068_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1C,g.-444T>G" A/C PharmGKB:PA130 rs72554603 hCV34816068 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TTCCAAAATACTTGAAATTCATCCC[A/C]ACAAGCCACACCTACAGATCTTTAC 99382148 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C__34816069_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1L,g.-630A>G" C/T PharmGKB:PA130 rs28988569 hCV34816069 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 TTTCCATCCCCTTCATGCAATCCTA[C/T]TGTCCTCTTTCCTCTTTACCACCAT 99382334 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0 0 Homo sapiens C___1837672_20 CYP3A4 HLP|CP33|CP34|CYP3A|NF-25|CYP3A3|P450C3|P450PCN1|MGC126680 "CYP3A4*1F,g.-747C>G" C/G PharmGKB:PA130 rs11773597 hCV1837672 "cytochrome P450, family 3, subfamily A, polypeptide 4" NM_017460 CTGTCATGGCTCTGGTCCCTACCAG[C/G]GTGCTGTACACACAGTGGGCAACTA 99382451 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.03 0 0 0 Homo sapiens C__31358640_10 SLC15A1 PEPT1|HPECT1|HPEPT1|RP11-130L10.1 A/G PharmGKB:PA323 rs4646206 hCV31358640 UTR 5 "solute carrier family 15 (oligopeptide transporter), member 1" NM_005073 GCTCCCAGGGCTCCTGCGACCTGCC[A/G]GCGGGACGTGCTCCTGGCAGGTGCT 99404885 NCBI Build 37.1 Human "13q32.3a,13q32.3" 13 0 0 0 0 Homo sapiens C__25592987_10 CYP3A43 MGC119315|MGC119316 C/T || rs45577236 hCV25592987 UTR 5|UTR 5|UTR 5 "cytochrome P450, family 3, subfamily A, polypeptide 43" NM_022820|NM_057095|NM_057096 ATCACCTCTGGGCAGAGAAACAAAG[C/T]TCTATATGCACAGCCCAGCAAAGAG 99425658 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.08 0 0 Homo sapiens C__32287190_10 CYP3A43 MGC119315|MGC119316 "CYP3A43*2A,g.8340A>del|CYP3A43*2A,g.8340delA|CYP3A43*2B,g.8340A>del|CYP3A43*2B,g.8340delA" A/- || rs61469810 hCV32287190 Frame Shift InDel|Frame Shift InDel|Frame Shift InDel "cytochrome P450, family 3, subfamily A, polypeptide 43" NM_022820|NM_057095|NM_057096 TGGCTTTCTCTTTTATTTTATAGTT[A/-]TGGGACCCATTCACATAAACTTTTT 99434078 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.07 0.17 0 0 Homo sapiens C__30633876_10 CYP3A43 MGC119315|MGC119316 C/T L114|L114|L114 rs4646474 hCV30633876 Silent Mutation|Silent Mutation|Silent Mutation "cytochrome P450, family 3, subfamily A, polypeptide 43" NM_022820|NM_057095|NM_057096 CAAGCCTTTAGGTCCAATGGGATTT[C/T]TGAAAAGTGCCTTAAGTTTTGCTGA 99445132 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0 0.01 0 Homo sapiens C__25592999_20 CYP3A43 MGC119315|MGC119316 G/T I145|I145|I145 rs45450092 hCV25592999 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 43" NM_022820|NM_057095|NM_057096 CTATGGGTGGTGTTGTGTTTTAGAT[G/T]GTCCCCATCATTTCCCAATGTGGAG 99445791 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0 0.04 0 0 Homo sapiens C____317740_10 CYP3A43 MGC119315|MGC119316 C/T N198|N198|N198 rs800667 hCV317740 Silent Mutation|Silent Mutation|Silent Mutation "cytochrome P450, family 3, subfamily A, polypeptide 43" NM_022820|NM_057095|NM_057096 GAGTGAACTTGGATTCTCTCAACAA[C/T]CCACAAGATCCCTTTCTGAAAAATA 99447241 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.08 0.5 0 0 Homo sapiens C____894855_20 CYP3A43 MGC119315|MGC119316 "CYP3A43*2B,g.31867C>G|CYP3A43*3,g.31867C>G" C/G A340|A340|A340 rs680055 hCV894855 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 3, subfamily A, polypeptide 43" NM_022820|NM_057095|NM_057096 GCAGGAGGAGATTGACGCAGTTTTA[C/G]CCAATAAGGTAAGGGGATGATCCCC 99457605 NCBI Build 37.1 Human "7q22.1b,7q22.1" 7 0.07 0.32 0 0 Homo sapiens C__25592988_10 CYP3A43 MGC119315|MGC119316 "CYP3A43*1B,g.33518C>T" C/T A349|A349|A349 rs17342647 hCV25592988 Silent Mutation|Silent Mutation|Silent Mutation "cytochrome P450, family 3, subfamily A, polypeptide 43" NM_022820|NM_057095|NM_057096 CCCAGGCACCTGTCACCTACGATGC[C/T]CTGGTACAGATGGAGTACCTTGACA 99459256 NCBI Build 37.1 Human "7q22.1,7q22.1b" 7 0.08 0.02 0 0 Homo sapiens C__33249205_20 ADH5 FDH|ADHX|ADH-3|GSNOR A/C E353 rs16996593 hCV33249205 Mis-sense Mutation "alcohol dehydrogenase 5 (class III), chi polypeptide" NM_000671 TCAGTTCAAAGGCTTTGTTGATTTC[A/C]TCAAAAGACAGATTGTGAGTCACAA 99993765 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__26457150_10 ADH5 FDH|ADHX|ADH-3|GSNOR C/G hCV26457150 "alcohol dehydrogenase 5 (class III), chi polypeptide" NM_000671 TTATCTTTTTGGACATATATTCAGA[C/G]ACCAACTTTGGGACACTTTCTACAC 99993828 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__26457153_40 ADH5 FDH|ADHX|ADH-3|GSNOR A/T L246 rs1050637 hCV26457153 Mis-sense Mutation "alcohol dehydrogenase 5 (class III), chi polypeptide" NM_000671 TGAGCACTTCCTGGATGGGTTTACT[A/T]AAATCCTGAGGGTTAATACATTCAG 99997530 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__26457154_10 ADH5 FDH|ADHX|ADH-3|GSNOR A/C Y167 rs1050636 hCV26457154 Mis-sense Mutation "alcohol dehydrogenase 5 (class III), chi polypeptide" NM_000671 CCACAACCTAGAAGGCAGACTTTAT[A/C]CAAAGGTGCTAAAGGATCTATTTTA 99997920 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__11349123_20 ADH5 FDH|ADHX|ADH-3|GSNOR C/T rs1154400 hCV11349123 "alcohol dehydrogenase 5 (class III), chi polypeptide" NM_000671 GCGGTGCTCGAGCTGTGGTGCGTGC[C/T]GCTAAGTTGTGCGTTCCAGGGTGCA 100010010 NCBI Build 37.1 Human "4q23b,4q23" 4 0.37 0.42 0.01 0 Homo sapiens C___9523707_30 ADH4 ADH-2 C/T rs1042364 hCV9523707 UTR 3 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 GTTCACATTCAATCAGATAGTATTC[C/T]GAATTGCTCCTGGCATCTTCAAAAG 100045574 NCBI Build 37.1 Human "4q23b,4q23" 4 0.35 0.16 0.01 0 Homo sapiens C___9523708_20 ADH4 ADH-2 C/T rs1126673 hCV9523708 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 CTTCAAAAGATGAGGATTGTTCGGA[C/T]GCTGTTAATAACAATAAAACATTAA 100045616 NCBI Build 37.1 Human "4q23b,4q23" 4 0.34 0.22 0.01 0 Homo sapiens C__11941798_30 ADH4 ADH-2 A/G rs1126672 hCV11941798 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 TCAAAAGGCAGGGTATGGGTCACCA[A/G]TGCATCCAGATTGAATTTCTTATTC 100047812 NCBI Build 37.1 Human "4q23b,4q23" 4 0.35 0.16 0.01 0 Homo sapiens C__11941799_30 ADH4 ADH-2 C/T V309 rs1126671 hCV11941799 Mis-sense Mutation "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 CCGATTATTAGCTCCTCTGGAAAAA[C/T]AGTCAATCCTTTGCTACCAGCAGCT 100048414 NCBI Build 37.1 Human "4q23b,4q23" 4 0.36 0.22 0.01 0 Homo sapiens C____519458_40 ADH4 ADH-2 A/C rs1126670 hCV519458 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 TCAATTCAATGATAACTTCCTGGAT[A/C]GGTTTATGTAAGTCTCTAGGATTGA 100052733 NCBI Build 37.1 Human "4q23b,4q23" 4 0.34 0.23 0.01 0 Homo sapiens C__33249308_10 ADH4 ADH-2 -/G hCV33249308 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 TGCAGCCTCATGGCCAACGATCACT[-/G]GGAAAGCTAGGCCCTCAAATTTAGA 100062763 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__11941805_40 ADH4 ADH-2 A/G rs2032349 hCV11941805 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 TAACAGTGGCATCAGTATGGCACAG[A/G]GAGGTAGCAATGATCTACAAGGCAA 100062819 NCBI Build 37.1 Human "4q23b,4q23" 4 0.01 0.06 0 0 Homo sapiens C___8829281_20 ADH4 ADH-2 G/T rs1800759 hCV8829281 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 CATGTTGCTTAATTCTCCAATCACT[G/T]CCTTTTCTCCTTTGTTGCTGTAATT 100065509 NCBI Build 37.1 Human "4q23b,4q23" 4 0.47 0.21 0.22 0.06 Homo sapiens C__26457248_10 ADH4 ADH-2 A/T rs1800760 hCV26457248 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 CCCAGTGAGCTCCAAGATTTTTTAA[A/T]TTCTTTTTTCTTTTATTGAAAAATA 100065626 NCBI Build 37.1 Human "4q23b,4q23" 4 0.38 0.1 0.05 0.11 Homo sapiens C__27848013_10 ADH4 ADH-2 C/T rs28987087 hCV27848013 "alcohol dehydrogenase 4 (class II), pi polypeptide" NM_000670 TATCCAATAGTTTAATCTAGCAAAG[C/T]CTTTTTATGAATGGAATCATAGTGT 100065853 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0.03 0 0 Homo sapiens C__25636486_10 ADH6 ADH-5 C/T G299|G299 rs58427639 hCV25636486 Mis-sense Mutation|Mis-sense Mutation alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 TGGCCACTGATTTTGAGTTGAACAC[C/T]GGCAGGCAACACCCCAACAACCACA 100128672 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0.01 0 0 Homo sapiens C__30633928_10 ADH6 ADH-5 C/T V295|V295 rs4147546 hCV30633928 Silent Mutation|Silent Mutation alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 TTTTGAGTTGAACACTGGCAGGCAA[C/T]ACCCCAACAACCACACAGACCCCAT 100128682 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__25636488_20 ADH6 ADH-5 A/C R172|R172 rs56710682 hCV25636488 Mis-sense Mutation|Mis-sense Mutation alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 CCCAGTGGAAAAGCCACAGCTAATT[A/C]GGCATACTTTCTCTAGAGGAGCGAC 100131291 NCBI Build 37.1 Human "4q23b,4q23" 4 0.01 0 0 0 Homo sapiens C__25636499_10 ADH6 ADH-5 C/T | rs28720153 hCV25636499 | alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 TTAGTAAAAACTTACTTGAATTGTA[C/T]ACAAAAATTGCCCTCAGAATTCAGG 100131582 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0.08 0 0 Homo sapiens C__30633929_20 ADH6 ADH-5 A/G L15|L15 rs6843298 hCV30633929 Silent Mutation|Silent Mutation alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 TAGAAAATGGTGCACCAGGCTTCCA[A/G]AGTATGGCTGCTTTGCATCTGATGA 100137393 NCBI Build 37.1 Human "4q23,4q23b" 4 0 0 0 0 Homo sapiens C__28017653_10 ADH6 ADH-5 A/T C2|C2 rs4699735 hCV28017653 Mis-sense Mutation|Mis-sense Mutation alcohol dehydrogenase 6 (class V) NM_000672|NM_001102470 ACTGCACCTACTTGGCCTGTAGTAC[A/T]CATGCTGATTTTCTCCACCGCAGAT 100140306 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__26475876_10 CYP46A1 CP46|CYP46 A/G rs15506 hCV26475876 UTR 3 "cytochrome P450, family 46, subfamily A, polypeptide 1" NM_006668 TCAGCGCCTCAAGGGTAGGGTCTGC[A/G]TGTGATTTGTCTCTGAGCCCCCTGT 100193559 NCBI Build 37.1 Human "14q32.2b,14q32.2" 14 0 0 0 0 Homo sapiens C__25652123_10 ADH1A ADH1 A/G rs6828526 hCV25652123 "alcohol dehydrogenase 1A (class I), alpha polypeptide" NM_000667 CAGAAACCTACTCGTTTTTCAAGCA[A/G]TAGTTGCTCTCCGGGTTTTTACAAA 100205887 NCBI Build 37.1 Human "4q23,4q23b" 4 0 0.02 0 0 Homo sapiens C__25652124_20 ADH1A ADH1 C/T hCV25652124 "alcohol dehydrogenase 1A (class I), alpha polypeptide" NM_000667 GACTGTAGTCACCCCTTCTCCAACA[C/T]TCTCCACGATGCCGGCTGCCTCATG 100208039 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__11941896_20 ADH1B ADH2|DKFZp686C06125 A/G C370 PharmGKB:PA24571 rs2066702 hCV11941896 Mis-sense Mutation "alcohol dehydrogenase 1B (class I), beta polypeptide" NM_000668 TTGCCTCAAAACGTCAGGACGGTAC[A/G]GATACTGCAATAGGAAAGAAGAGAC 100229017 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0.26 0 0 Homo sapiens C___8829489_20 ADH1B ADH2|DKFZp686C06125 A/C A222 PharmGKB:PA24571 rs2018417 hCV8829489 Silent Mutation "alcohol dehydrogenase 1B (class I), beta polypeptide" NM_000668 CAAATTTGTCCTTGTTGATGTCCAC[A/C]GCAATGATTCTGGCTGCTCCAGCTG 100235140 NCBI Build 37.1 Human "4q23b,4q23" 4 0.02 0.06 0 0 Homo sapiens C__25939834_10 ADH1B ADH2|DKFZp686C06125 A/G PharmGKB:PA24571 rs28626993 hCV25939834 "alcohol dehydrogenase 1B (class I), beta polypeptide" NM_000668 TACAGCCCATAACAGCAGATAGGCC[A/G]ACCCCTCCCAGGCCAAACACAGCAC 100235194 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0.09 0 0 Homo sapiens C__29127160_10 ADH1B ADH2|DKFZp686C06125 A/T S60 PharmGKB:PA24571 rs6413413 hCV29127160 Mis-sense Mutation "alcohol dehydrogenase 1B (class I), beta polypeptide" NM_000668 TGGCCTAAAATCACAGGAAGGGGGG[A/T]CACCAGGTTGCCACTAACCACGTGG 100239284 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0.01 0 0 Homo sapiens C__26457373_10 ADH1B ADH2|DKFZp686C06125 G/T K57 PharmGKB:PA24571 rs1041969 hCV26457373 Mis-sense Mutation "alcohol dehydrogenase 1B (class I), beta polypeptide" NM_000668 AAATCACAGGAAGGGGGGTCACCAG[G/T]TTGCCACTAACCACGTGGTCATCTG 100239291 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C___2688467_20 ADH1B ADH2|DKFZp686C06125 C/T R48 PharmGKB:PA24571 rs1229984 hCV2688467 Mis-sense Mutation "alcohol dehydrogenase 1B (class I), beta polypeptide" NM_000668 GCCACTAACCACGTGGTCATCTGTG[C/T]GACAGATTCCTACAGCCACCATCTA 100239319 NCBI Build 37.1 Human "4q23b,4q23" 4 0.06 0 0.14 0.31 Homo sapiens C__33249457_30 ADH1B ADH2|DKFZp686C06125 -/C G17E PharmGKB:PA24571 rs72552716 hCV33249457 Frame Shift InDel "alcohol dehydrogenase 1B (class I), beta polypeptide" NM_000668 TCAATGGAAAAGGGTTTCTTTACCT[-/C]CCCATAGCACAGCTGCTTTGCATTT 100240013 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__33249474_30 ADH1C ADH3 A/G C370 PharmGKB:PA24572 rs55868078 hCV33249474 Mis-sense Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 TTGTTTCAAAACGTCAGGACGGTAC[A/G]GATACTGCAATAGGAAAGAAGAGAC 100257929 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__26457410_10 ADH1C ADH3 C/T PharmGKB:PA24572 rs698 hCV26457410 "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 TCATTTATTTTTTCAAAAGGTAAAA[C/T]ATTTGTTATTAATGCATCCAGTGAA 100260789 NCBI Build 37.1 Human "4q23b,4q23" 4 0.33 0.18 0.02 0.09 Homo sapiens C__26457411_10 ADH1C ADH3 C/G P330 PharmGKB:PA24572 rs1042756 hCV26457411 Silent Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 TAGCCATAAAGTCAGCCACAAGTTT[C/G]GGGACAGATTCTTTACTCTTAAAGC 100260847 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C___2688502_10 ADH1C ADH3 C/T Q272 PharmGKB:PA24572 rs1693482 hCV2688502 Mis-sense Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 CACGGATCATACCATGGTGTCAAGC[C/T]GACCGATGACTTCAAACGAAAAATC 100263965 NCBI Build 37.1 Human "4q23b,4q23" 4 0.33 0.18 0.02 0.07 Homo sapiens C__25652138_10 ADH1C ADH3 A/G N226 PharmGKB:PA24572 rs6413444 hCV25652138 Silent Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 CTTTAGCCTTTGCAAATTTGTCCTT[A/G]TTGATGTCCACAGCAATGATTCTGG 100264102 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C___2688507_10 ADH1C ADH3 C/T V158 PharmGKB:PA24572 rs1693425 hCV2688507 Silent Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 GGGGCGAGGCTGCATCAATTTTGGC[C/T]ACTGCATTCTCATCCACCACTGTGT 100266112 NCBI Build 37.1 Human "4q23b,4q23" 4 0.33 0.18 0.02 0.08 Homo sapiens C___2688508_10 ADH1C ADH3 C/T T151 PharmGKB:PA24572 rs2241894 hCV2688508 Silent Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 TGGCCACTGCATTCTCATCCACCAC[C/T]GTGTACTGGGAGAAGGTGCTGACGC 100266133 NCBI Build 37.1 Human "4q23b,4q23" 4 0.23 0.49 0.05 0.23 Homo sapiens C___2688509_10 ADH1C ADH3 A/G C104 PharmGKB:PA24572 rs1789915 hCV2688509 Silent Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 AGCAGTAGTTGCTTTCTGGGTTTTT[A/G]CAAATTCTGCATTTTCCACACTGAG 100266371 NCBI Build 37.1 Human "4q23b,4q23" 4 0.26 0.14 0 0.01 Homo sapiens C__26457440_10 ADH1C ADH3 A/C X78 PharmGKB:PA24572 rs283413 hCV26457440 Nonsense Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 GGTTTGACTGTAGTCACCCCTTCTC[A/C]AACACTTTCCACGATGCCGGCTGCC 100268190 NCBI Build 37.1 Human "4q23,4q23b" 4 0 0 0 0 Homo sapiens C__33249485_10 ADH1C ADH3 C/T H48 PharmGKB:PA24572 rs35385902 hCV33249485 Mis-sense Mutation "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 GCCACTAACCACATGCTCATCTGAA[C/T]GACAGATTCCTGCAGCCACCATCTA 100268279 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__27838293_20 ADH1C ADH3 C/T PharmGKB:PA24572 rs72552717 hCV27838293 UTR 5 "alcohol dehydrogenase 1C (class I), gamma polypeptide" NM_000669 TCTGTCTTCTCTGCAGACCAGGAGG[C/T]TGGTGAGTACTTGTGGATTTCTTCT 100273864 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0 0 0 Homo sapiens C__25628227_10 ADH7 ADH4 C/T L361F|F369L rs61730852 hCV25628227 Mis-sense Mutation|Mis-sense Mutation "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 TCACTGATTTTTTTAAATGGTAAAA[C/T]ATGAGTTATCAACTGGTCCAGGTCA 100336690 NCBI Build 37.1 Human "4q23,4q23b" 4 0 0 0 0 Homo sapiens C__25628233_30 ADH7 ADH4 C/T | rs59534319 hCV25628233 | "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 GCCATGGCCTTCTCAAATTTGTCTT[C/T]GTTGAGGTCAATCCCAATGATCCTA 100341839 NCBI Build 37.1 Human "4q23b,4q23" 4 0 0.04 0 0 Homo sapiens C__11942306_30 ADH7 ADH4 C/T R230|R238 rs971074 hCV11942306 Silent Mutation|Silent Mutation "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 CTTTGTTGAGGTCAATCCCAATGAT[C/T]CTAGATGCACCAGCTGACTTACAGC 100341861 NCBI Build 37.1 Human "4q23b,4q23" 4 0.13 0.19 0.11 0.07 Homo sapiens C___8934008_80 ADH7 ADH4 G/T V149|V157 rs1042111 hCV8934008 Silent Mutation|Silent Mutation "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 ATGTACTGGTGTTCATGAAGTGGTG[G/T]ACTGGTTTGCCCTTGCATGTAAATC 100349083 NCBI Build 37.1 Human "4q23c,4q23" 4 0 0 0 0 Homo sapiens C__33249581_10 ADH7 ADH4 -/A | hCV33249581 | "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 GACTGGTTTGCCCTTGCATGTAAAT[-/A]CTGGTGGTGCCATCAGCCAGTACTC 100349108 NCBI Build 37.1 Human "4q23c,4q23" 4 0 0 0 0 Homo sapiens C____714912_30 ADH7 ADH4 C/T H132|H140 rs284797 hCV714912 Mis-sense Mutation|Mis-sense Mutation "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 GGTGGTGCCATCAGCCAGTACTCCA[C/T]GACCAGTAATACTGTTTGATACATC 100349135 NCBI Build 37.1 Human "4q23c,4q23" 4 0.01 0 0 0 Homo sapiens C___8934009_30 ADH7 ADH4 C/G A92|A100 rs1573496 hCV8934009 Mis-sense Mutation|Mis-sense Mutation "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 TATACCTGGTTTCACTGTAGTCACT[C/G]CTTCTCCAATGCTCTCTACAATCCC 100349669 NCBI Build 37.1 Human "4q23c,4q23" 4 0.13 0 0 0 Homo sapiens C__25628221_20 ADH7 ADH4 A/G | rs17537595 hCV25628221 UTR 5| "alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide" NM_000673|NM_001166504 TGATGCTCAGTTCACTCTGTTGTAT[A/G]TAACAGCAGCTTGTGCCTTCACATA 100356466 NCBI Build 37.1 Human "4q23c,4q23" 4 0.14 0.03 0 0.19 Homo sapiens C__34446548_10 SRRT ARS2|ASR2|serrate|MGC126427 C/T ||| rs7789085 hCV34446548 UTR 5|UTR 5|UTR 5|UTR 5 serrate RNA effector molecule homolog (Arabidopsis) NM_001128852|NM_001128853|NM_001128854|NM_015908 CCCACTTTTGTTCGCCTCTCTTCGG[C/T]CCTCTACTCAAGAGCTCCGTCTCCG 100472826 NCBI Build 37.1 Human "7q22.1d,7q22.1" 7 0.24 0.11 0.45 0.33 Homo sapiens C__12100556_20 SRRT ARS2|ASR2|serrate|MGC126427 A/C Q71|Q71|Q71|Q71 rs9735 hCV12100556 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation serrate RNA effector molecule homolog (Arabidopsis) NM_001128852|NM_001128853|NM_001128854|NM_015908 GAGAGCGCTTCTCGCCACCTCGCCA[A/C]GAACTCAGCCCGCCACAGAAGCGCA 100478996 NCBI Build 37.1 Human "7q22.1d,7q22.1" 7 0 0 0 0 Homo sapiens C___9182882_10 SRRT ARS2|ASR2|serrate|MGC126427 A/G P75|P75|P75|P75 rs11983638 hCV9182882 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation serrate RNA effector molecule homolog (Arabidopsis) NM_001128852|NM_001128853|NM_001128854|NM_015908 CGCCACCTCGCCACGAACTCAGCCC[A/G]CCACAGAAGCGCATGAGGAGAGACT 100479008 NCBI Build 37.1 Human "7q22.1d,7q22.1" 7 0 0.03 0 0 Homo sapiens C___8786536_10 SRRT ARS2|ASR2|serrate|MGC126427 C/T L265|L265|L265|L265 rs15624 hCV8786536 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation serrate RNA effector molecule homolog (Arabidopsis) NM_001128852|NM_001128853|NM_001128854|NM_015908 TGGAAGGAGGCACGGAGAATGATCT[C/T]CGCATCCTGGAGCAGGAGGAGGAGG 100482026 NCBI Build 37.1 Human "7q22.1,7q22.1d" 7 0.47 0.47 0.12 0.2 Homo sapiens C___8786528_10 SRRT ARS2|ASR2|serrate|MGC126427 C/T D856|D853|D852|D857 rs11171 hCV8786528 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation serrate RNA effector molecule homolog (Arabidopsis) NM_001128852|NM_001128853|NM_001128854|NM_015908 CACCTCACAGGATGGTTCGTGGAGA[C/T]CCAAGGGCCATTGTGGAATATCGGG 100486110 NCBI Build 37.1 Human "7q22.1d,7q22.1" 7 0.09 0.22 0 0 Homo sapiens C__16069074_20 SRRT ARS2|ASR2|serrate|MGC126427 A/T V872|V869|V868|V873 rs2733917 hCV16069074 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation serrate RNA effector molecule homolog (Arabidopsis) NM_001128852|NM_001128853|NM_001128854|NM_015908 GGGACCTGGATGCCCCAGACGATGT[A/T]GATTTCTTTTGAGCCGTCCCCCGTT 100486158 NCBI Build 37.1 Human "7q22.1,7q22.1d" 7 0 0 0 0 Homo sapiens C__30633856_10 CHST10 HNK-1ST|MGC17148|HNK1ST C/T rs4149522 hCV30633856 UTR 3 carbohydrate sulfotransferase 10 NM_004854 AGGCCCTCAAAGACACTCCCCTTCT[C/T]AGGTAGAAAAAGCCTCCCCTCCCCT 101008949 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0 0.05 0.1 Homo sapiens C___8746133_40 CHST10 HNK-1ST|MGC17148|HNK1ST C/T rs1530031 hCV8746133 UTR 3 carbohydrate sulfotransferase 10 NM_004854 CCACCAGTGATGGGTGAAGCCACCC[C/T]GACTAGCCAGGAGAACCTCAGGGGC 101009326 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0.44 0.4 0.21 0.18 Homo sapiens C__25753932_20 CHST10 HNK-1ST|MGC17148|HNK1ST C/T rs59148684 hCV25753932 carbohydrate sulfotransferase 10 NM_004854 TGGTTCTGTTATACACGGTAATGCC[C/T]GGAGGGATAGTCGGGTATGACACCA 101009848 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0.07 0 0 Homo sapiens C__27511289_20 CHST10 HNK-1ST|MGC17148|HNK1ST C/T T265 rs3748933 hCV27511289 Silent Mutation carbohydrate sulfotransferase 10 NM_004854 CACAGGGAGCACAGAGCTCTACATA[C/T]GTCACCCAGTGAATGATGTGGTCCC 101009983 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0 0.03 0.06 Homo sapiens C__27476471_20 CHST10 HNK-1ST|MGC17148|HNK1ST C/T N258 rs3748932 hCV27476471 Mis-sense Mutation carbohydrate sulfotransferase 10 NM_004854 TACGTCACCCAGTGAATGATGTGGT[C/T]CCCAAACTGAAGGTCTAGCCATCTG 101010006 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0 0 0 Homo sapiens C__27473280_30 CHST10 HNK-1ST|MGC17148|HNK1ST A/G G245 rs3748931 hCV27473280 Silent Mutation carbohydrate sulfotransferase 10 NM_004854 GGTCTAGCCATCTGTGGTTCGGATC[A/G]CCGAGGTAGCGCACGAAATCTTCAA 101010043 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0 0.03 0.03 Homo sapiens C___2108120_30 CHST10 HNK-1ST|MGC17148|HNK1ST C/G T232 rs3748930 hCV2108120 Silent Mutation carbohydrate sulfotransferase 10 NM_004854 CGAAATCTTCAAACTGGATCCCCCG[C/G]GTCTCTGTCCGGTTCCTCCTGTATT 101010082 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0.46 0.41 0.22 0.18 Homo sapiens C__30870446_10 CHST10 HNK-1ST|MGC17148|HNK1ST A/T N225 rs12476171 hCV30870446 Mis-sense Mutation carbohydrate sulfotransferase 10 NM_004854 CGGGTCTCTGTCCGGTTCCTCCTGT[A/T]TTTTCTGATGATGCCAGGAGCAATC 101010105 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0 0 0 Homo sapiens C__30633858_10 CHST10 HNK-1ST|MGC17148|HNK1ST A/G I148 rs4149520 hCV30633858 Silent Mutation carbohydrate sulfotransferase 10 NM_004854 GCACCACGTTTTCGGGGATCTCCTC[A/G]ATGGAAGAAAATGCTCCTGGGAAGT 101012060 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0 0.01 0 Homo sapiens C__25756007_20 CHST10 HNK-1ST|MGC17148|HNK1ST A/G rs57227647 hCV25756007 carbohydrate sulfotransferase 10 NM_004854 TTTTCGGGGATCTCCTCAATGGAAG[A/G]AAATGCTCCTGGGAAGTAAACGGAA 101012068 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0.1 0 0 Homo sapiens C___8746126_30 CHST10 HNK-1ST|MGC17148|HNK1ST A/G L63 rs1465829 hCV8746126 Silent Mutation carbohydrate sulfotransferase 10 NM_004854 CACGGCCTGGCTGTGCCCACCTTCA[A/G]TTCCTCAGGAATGTGCTTCTCTTCT 101019031 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0.02 0.05 0.1 Homo sapiens C__25755156_20 CHST10 HNK-1ST|MGC17148|HNK1ST A/C L20 rs35177621 hCV25755156 Mis-sense Mutation carbohydrate sulfotransferase 10 NM_004854 GTCAACGTGATGAACTTGCTAGCCA[A/C]CATGAACATGAAAATCACCCAAAAG 101023080 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0.03 0 0 Homo sapiens C__32731529_10 CHST10 HNK-1ST|MGC17148|HNK1ST -/C rs72552256 hCV32731529 UTR 5 carbohydrate sulfotransferase 10 NM_004854 CTTCTGCAGCCTGGGGCTCACATTT[-/C]CTTGCTGTGTTTCCCCTGAACTGAG 101031528 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0 0 0 0 Homo sapiens C__29454084_10 CHST10 HNK-1ST|MGC17148|HNK1ST G/T rs3828193 hCV29454084 UTR 5 carbohydrate sulfotransferase 10 NM_004854 TGTTTCCCCTGAACTGAGGTTCTTG[G/T]TTCCTCTTGTCACTGGATAGGAAAA 101031561 NCBI Build 37.1 Human "2q11.2d,2q11.2" 2 0.4 0.09 0.32 0.31 Homo sapiens C__16172136_20 ALDH1A3 ALDH6|RALDH3|ALDH1A6 C/G Q41 rs58142816 hCV16172136 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member A3" NM_000693 AGATATTTATCAACAATGAATGGCA[C/G]GAATCCAAGAGTGGGAAAAAGTTTG 101425495 NCBI Build 37.1 Human "15q26.3c,15q26.3" 15 0 0.01 0 0 Homo sapiens C__34647395_10 ALDH1A3 ALDH6|RALDH3|ALDH1A6 -/G hCV34647395 Frame Shift InDel "aldehyde dehydrogenase 1 family, member A3" NM_000693 GCAGGCCCTGGAGACGATGGATACA[-/G]GGGAAGCCATTTCTTCATGCTTTTT 101432736 NCBI Build 37.1 Human "15q26.3c,15q26.3" 15 0 0 0 0 Homo sapiens C__27490939_20 ALDH1A3 ALDH6|RALDH3|ALDH1A6 A/C I369 rs3803431 hCV27490939 Silent Mutation "aldehyde dehydrogenase 1 family, member A3" NM_000693 AGTTCGACAAAATCTTAGAGCTGAT[A/C]GAGAGTGGGAAGAAGGAAGGGGCCA 101445766 NCBI Build 37.1 Human "15q26.3c,15q26.3" 15 0 0 0.02 0.04 Homo sapiens C__25767417_30 ALDH1A3 ALDH6|RALDH3|ALDH1A6 A/G V386 rs3803430 hCV25767417 Mis-sense Mutation "aldehyde dehydrogenase 1 family, member A3" NM_000693 CAAGCTGGAATGCGGGGGCTCAGCC[A/G]TGGAAGACAAGGGGCTCTTCATCAA 101445815 NCBI Build 37.1 Human "15q26.3c,15q26.3" 15 0.03 0.23 0.07 0.11 Homo sapiens C___2814642_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T PharmGKB:PA116 rs717620 hCV2814642 UTR 5 "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ACAATCATATTAATAGAAGAGTCTT[C/T]GTTCCAGACGCAGTCCAGGAATCAT 101542578 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.2 0.07 0.11 0.14 Homo sapiens C___7555700_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/T Y39 PharmGKB:PA116 rs927344 hCV7555700 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GTTCTGGTGTGGATTCCCTTGGGCT[A/T]CCTATGGCTCCTGGCCCCCTGGCAG 101544447 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.02 0 0 Homo sapiens C__25591760_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G K53 PharmGKB:PA116 rs17222596 hCV25591760 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CCTGGCAGCTTCTCCACGTGTATAA[A/G]TCCAGGACCAAGAGATCCTCTACCA 101544490 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.02 0.01 0 0 Homo sapiens C__30634030_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/C PharmGKB:PA116 rs17222744 hCV30634030 "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ATTAGTGAGCAAGTTTGAAACGCAC[A/C]TGAAGAGAGAGCTGCAGAAAGCCAG 101556957 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.01 0 0 Homo sapiens C__25591779_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G N281 PharmGKB:PA116 rs56131651 hCV25591779 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CTGCCTGGCTTGAACAAGAATCAGA[A/G]TCAAAGCCAAGATGCCCTTGTCCTG 101557063 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.01 0 0 0 Homo sapiens C__25591782_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G G333 PharmGKB:PA116 rs17222674 hCV25591782 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 TCATTCCTACTGAAGCTAGTGAATG[A/G]CATCTTCACGTTTGTGAGTCCTCAG 101559094 NCBI Build 37.1 Human "10q24.2,10q24.2c" 10 0 0.01 0 0 Homo sapiens C__25591787_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G H353 PharmGKB:PA116 rs7080681 hCV25591787 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 TTGCTGATCTCCTTTGCAAGTGACC[A/G]TGACACATATTTGTGGATTGGATAT 101560169 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.03 0 0 Homo sapiens C__25981571_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T L407 PharmGKB:PA116 rs17216198 hCV25981571 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CAATCCTTATCTTTAGGCATTGACC[C/T]TATCCAACTTGGCCAGGAAGGAGTA 101563785 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.02 0 0 Homo sapiens C__22272980_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G I417 PharmGKB:PA116 rs2273697 hCV22272980 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CAACTTGGCCAGGAAGGAGTACACC[A/G]TTGGAGAAACAGTGAACCTGATGTC 101563815 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.18 0.19 0.14 0.02 Homo sapiens C__30634029_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T I486 PharmGKB:PA116 rs17222589 hCV30634029 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GCGATACTGTCCACCAAGAGTAAGA[C/T]CATTCAGGTAAAGAAAAAGTCACCC 101564023 NCBI Build 37.1 Human "10q24.2,10q24.2c" 10 0 0 0.01 0 Homo sapiens C__30634028_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G E495 PharmGKB:PA116 rs17222561 hCV30634028 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CTGGCAGGTCAAAAATATGAAGAAT[A/G]AAGACAAACGTTTAAAGATCATGAA 101565157 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.01 0 0 0 Homo sapiens C__33867729_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 -/C S601S PharmGKB:PA116 rs72558198 hCV33867729 Frame Shift InDel "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GAGCATGCTTCCCATGATGATCTCC[-/C]TCCATGCTCCAGGTAGGTCGGCATT 101567975 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__30634025_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T T670 PharmGKB:PA116 rs17222632 hCV30634025 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ATGGCAGGCCAACTTGTGGCTGTGA[C/T]AGGCCCTGTCGGCTCTGGGAAATCC 101572816 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.02 0 0 Homo sapiens C__30634024_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/C V691 PharmGKB:PA116 rs17222624 hCV30634024 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CCATGCTGGGAGAAATGGAAAATGT[A/C]CACGGGCACATCACCATCAAGGTGA 101572880 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__27471651_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G S718 PharmGKB:PA116 rs3740072 hCV27471651 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ATTCAGAATGGCACCATAAAGGACA[A/G]CATCCTTTTTGGAACAGAGTTTAAT 101577123 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C______2864_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T W768 PharmGKB:PA116 rs56199535 hCV2864 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 AAATCTTAGTGGGGGTCAGAAGCAG[C/T]GGATCAGCCTGGCCAGAGCTACCTA 101578577 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__30634023_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T F789 PharmGKB:PA116 rs56220353 hCV30634023 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ATCTATCTTCTAGATGACCCCCTGT[C/T]TGCAGTGGATGCTCATGTAGGAAAA 101578641 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0.02 0.02 Homo sapiens C__27471650_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/G Q893 PharmGKB:PA116 rs3740071 hCV27471650 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CTATGGGCTGATATCCAGTGTGGAA[C/G]AGATCCCCGAAGATGCAGCCTCCAT 101590120 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__25591741_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/C X967 PharmGKB:PA116 rs17222547 hCV25591741 Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CTTTGCAGGTGAAGTTCTCCATCTA[A/C]CTGGAGTACCTACAAGCAATAGGAT 101591385 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__27510124_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G S978 PharmGKB:PA116 rs3740070 hCV27510124 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ACCTACAAGCAATAGGATTGTTTTC[A/G]ATATTCTTCATCATCCTTGCGTTTG 101591418 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0.07 0.06 Homo sapiens C__30634033_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G V982 PharmGKB:PA116 rs17222554 hCV30634033 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 AATAGGATTGTTTTCGATATTCTTC[A/G]TCATCCTTGCGTTTGTGATGAATTC 101591428 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__30634032_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T T1036 PharmGKB:PA116 rs45441199 hCV30634032 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ACAAAACTGCTTCCATCTCTAGGTA[C/T]ATTTGTGTTCATAGCACATTTCTGG 101591737 NCBI Build 37.1 Human "10q24.2,10q24.2c" 10 0 0 0 0 Homo sapiens C__30634031_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G S1063 PharmGKB:PA116 rs17222540 hCV30634031 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ATCTTGCACAAGCAACTGCTGAACA[A/G]TATCCTTCGAGCACCTATGAGATTT 101591818 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__27541229_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T X1066 PharmGKB:PA116 rs72558199 hCV27541229 Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CAAGCAACTGCTGAACAATATCCTT[C/T]GAGCACCTATGAGATTTTTTGACAC 101591826 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__30634026_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T I1132 PharmGKB:PA116 rs17216345 hCV30634026 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CCATCATCGTCATTCCTCTTGGCAT[C/T]ATTTATGTATCTGTTCAGGTAGGTT 101594274 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__33867573_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G H1150 PharmGKB:PA116 rs72558200 hCV33867573 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GTGTCTACCTCCCGCCAGCTGAGGC[A/G]TCTGGACTCTGTCACCAGGTCCCCA 101595882 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__27973202_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/T F1173 PharmGKB:PA116 rs72558201 hCV27973202 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CGAGACCGTATCAGGTTTGCCAGTT[A/T]TCCGTGCCTTTGAGCACCAGCAGCG 101595950 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__25591748_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 G/T L1181 PharmGKB:PA116 rs8187692 hCV25591748 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 ATCCGTGCCTTTGAGCACCAGCAGC[G/T]ATTTCTGAAACACAATGAGGTGAGG 101595975 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.08 0 0 Homo sapiens C__25591743_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/T E1188 PharmGKB:PA116 rs17222723 hCV25591743 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CAGCGATTTCTGAAACACAATGAGG[A/T]GAGGATTGACACCAACCAGAAATGT 101595996 NCBI Build 37.1 Human "10q24.2,10q24.2c" 10 0.08 0.08 0 0 Homo sapiens C__29927065_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G A1273 PharmGKB:PA116 rs8187699 hCV29927065 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CAACATTGTGGCTGTTGAGCGAATA[A/G]CTGAGTACACAAAAGTGGAAAATGA 101603631 NCBI Build 37.1 Human "10q24.2,10q24.2c" 10 0 0.02 0 0 Homo sapiens C__25591755_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T L1291 PharmGKB:PA116 rs17216317 hCV25591755 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CCCTGGGTGACTGATAAGAGGCCTC[C/T]GCCAGATTGGCCCAGCAAAGGCAAG 101604107 NCBI Build 37.1 Human "10q24.2,10q24.2c" 10 0 0.03 0 0 Homo sapiens C__30634122_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/C Q1299 PharmGKB:PA116 rs4148400 hCV30634122 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 TCCGCCAGATTGGCCCAGCAAAGGC[A/C]AGATCCAGTTTAACAACTACCAAGT 101604130 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__27864927_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T X1310 PharmGKB:PA116 rs66898362 hCV27864927 Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GTTTAACAACTACCAAGTGCGGTAC[C/T]GACCTGAGCTGGATCTGGTCCTCAG 101604163 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__11214910_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T I1324 PharmGKB:PA116 rs3740066 hCV11214910 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 TCCTCAGAGGGATCACTTGTGACAT[C/T]GGTAGCATGGAGAAGGTAGGTGGAG 101604207 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.37 0.28 0.18 0.17 Homo sapiens C__22271637_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T L1370 PharmGKB:PA116 rs7899457 hCV22271637 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GAGTAGATATTGCTTCCATTGGGCT[C/T]CACGACCTCCGAGAGAAGCTGACCA 101605503 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.13 0 0 Homo sapiens C__32388977_10 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G R1382 PharmGKB:PA116 rs72558202 hCV32388977 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CGAGAGAAGCTGACCATCATCCCCC[A/G]GGTGAGCTCTAGAACTTACTCGGGC 101605538 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__25591762_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T H1414 PharmGKB:PA116 rs17216296 hCV25591762 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 TTTGGAAGGCCTTGGAGCTGGCTCA[C/T]CTCAAGTCTTTTGTGGCCAGCCTGC 101606813 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0 Homo sapiens C__25591767_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 G/T V1430 PharmGKB:PA116 rs1137968 hCV25591767 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 TGCAACTTGGGTTATCCCACGAAGT[G/T]ACAGAGGCTGGTGGCAACCTGAGGT 101606861 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.08 0.08 0 0 Homo sapiens C__30634119_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G T1450 PharmGKB:PA116 rs56296335 hCV30634119 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GAGGCAGCTGCTGTGCCTGGGCAGG[A/G]CTCTGCTTCGGAAATCCAAGATCCT 101610393 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0 0 0.02 Homo sapiens C__25591773_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G E1470 PharmGKB:PA116 rs8187706 hCV25591773 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 AGGCCACTGCTGCGGTGGATCTAGA[A/G]ACAGACAACCTCATTCAGACGACCA 101610455 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.13 0 0 Homo sapiens C__25591769_20 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T H1496 PharmGKB:PA116 rs8187707 hCV25591769 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 TGATCACCATCGCCCACAGGCTGCA[C/T]ACCATCATGGACAGTGACAAGTGAG 101610533 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.08 0.06 0 0 Homo sapiens C__25591774_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 C/T N1509 PharmGKB:PA116 rs8187709 hCV25591774 Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 GTTTCAGGGTAATGGTCCTAGACAA[C/T]GGGAAGATTATAGAGTGCGGCAGCC 101611277 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0 0.01 0 0 Homo sapiens C__22272567_30 ABCC2 DJS|MRP2|cMRP|ABC30|CMOAT|KIAA1010|RP11-114F7.2 A/G Y1515 PharmGKB:PA116 rs8187710 hCV22272567 Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 2" NM_000392 CTAGACAACGGGAAGATTATAGAGT[A/G]CGGCAGCCCTGAAGAACTGCTACAA 101611294 NCBI Build 37.1 Human "10q24.2c,10q24.2" 10 0.08 0.19 0 0 Homo sapiens C__27518773_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 C/T rs3803258 hCV27518773 UTR 3 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 TACTGGAAGAGCTAAGTTGAGTTCC[C/T]GTTCCCATAATGCTTGGGTGCACCA 103696987 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.17 0.07 0.13 0.18 Homo sapiens C__15755991_30 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/G rs2301159 hCV15755991 UTR 3 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 AAGAGCTCTTTGCCAAATACACACC[A/G]TTTGAAAGAATTATGTTTTTCCTTG 103697728 NCBI Build 37.1 Human "13q33.1,13q33.1b" 13 0.23 0.37 0.26 0.27 Homo sapiens C___2409305_30 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 C/G rs279942 hCV2409305 UTR 3 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 TTACATCTACTTTAACATACAGAAA[C/G]TCAGGTTGTCATCTATGGGCTAGGA 103698110 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.2 0.35 0.26 0.26 Homo sapiens C___2409304_30 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/C rs279941 hCV2409304 UTR 3 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 CATAAGAATTCAGTTTTGGTGTTAA[A/C]GATGTTTTCATTCTCGGTGTTCCCT 103698168 NCBI Build 37.1 Human "13q33.1,13q33.1b" 13 0.08 0.04 0.27 0.23 Homo sapiens C___2900463_30 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/G rs2301157 hCV2900463 UTR 3 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 TACTGAAACCAATACATGAATTCCA[A/G]TGAAATTCCAATTTTCACTTTAACT 103698363 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.39 0.23 0.41 0.47 Homo sapiens C__25608818_10 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/G S290 rs56398830 hCV25608818 Mis-sense Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 AGCTGGAAAATGCTGTAGATGAGCG[A/G]GAAGGTGAATACGACATTGAGCTCC 103701690 NCBI Build 37.1 Human "13q33.1,13q33.1b" 13 0.01 0 0 0 Homo sapiens C___2409308_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/G M262 rs72547505 hCV2409308 Mis-sense Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 ACATAGCTGCGTGTTCTGCATCCCC[A/G]TTTCAAAAGCAACCGTTCGGCACCT 103701773 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0 0 0 0 Homo sapiens C___2409298_30 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/C S171 rs188096 hCV2409298 Mis-sense Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 CCAATGGAAACAGGAACAACGAGAG[A/C]AACCAGAGATGTACCTAAAGATGAC 103705044 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.08 0.05 0.3 0.21 Homo sapiens C__25762577_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/G rs41281678 hCV25762577 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 GAAACAGGAACAACGAGAGAAACCA[A/G]AGATGTACCTAAAGATGACAGAAGG 103705050 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.02 0.02 0 0 Homo sapiens C__25608819_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 C/T rs60380298 hCV25608819 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 TTACCTATGTTATCATAGGGAATTA[C/T]GATGCTCCCAGAGTCGACCCACATT 103710635 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0 0.03 0 0 Homo sapiens C___2409295_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 C/T P142 rs157381 hCV2409295 Silent Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 TTTTGGTATAGATAAGGAGGCACAG[C/T]GGCATCATTCCGAGGGCAAGCAGTG 103710684 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0 0.08 0 0 Homo sapiens C__25608824_10 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 C/T I98 rs55971546 hCV25608824 Mis-sense Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 CAGCATCCTATAATGAGCACCACTA[C/T]GGCCTGGAGCGGGAGGATGTCAAAG 103718308 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.02 0 0 0 Homo sapiens C__25608825_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/G A43 rs41281680 hCV25608825 Silent Mutation "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 TGCATCCCATGGAGAACATCACCAA[A/G]GCCAACAGGATGGTCAGCACCGTAC 103718471 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0 0.03 0 0 Homo sapiens C__25608826_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 C/G rs41281682 hCV25608826 UTR 5 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 ATCATTCATTGCTGGGTCTGCTGCT[C/G]GAAAGGCCAAGTCCACAGAAGCGCT 103718616 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0 0.03 0 0 Homo sapiens C__27859026_20 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 A/G rs16961281 hCV27859026 UTR 5 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 TCAAGAGGTAGCATTACAACACAGA[A/G]CACGTTGTGAATCACAAAAGTCCAG 103718824 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.08 0.1 0.06 0.04 Homo sapiens C__29440391_10 SLC10A2 ASBT|IBAT|ISBT|PBAM|NTCP2 C/T rs7987433 hCV29440391 UTR 5 "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" NM_000452 AGGAACCATGCCATATAAAAAGAGC[C/T]GTGTTAATGTTTCATGCCATGAAGG 103719056 NCBI Build 37.1 Human "13q33.1b,13q33.1" 13 0.14 0.23 0.1 0.08 Homo sapiens C__27540663_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G hCV27540663 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 TCTGGCACCTCCAGGTCGAACCTCT[A/G]CAGCAGCCAGGCCATGATGAGGAAG 104590605 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27536498_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/T hCV27536498 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 GGCCAGGATCTCACCTATACAGGAG[C/T]GAGGTCCTGCTCCGAAGGGCAAATA 104590667 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__12119912_30 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/T P428 rs6164 hCV12119912 Silent Mutation "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 CTCCGAAGGGCAAATAGCTTACTGA[C/T]GGTGAGATGAGCTGGGTCCCCGCTG 104590702 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27861784_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/G hCV27861784 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 AGACTCACCAGGCATGAACTGATCC[C/G]GCTGGTGCCACTCCTTCTCATTGTG 104591282 NCBI Build 37.1 Human "10q24.32,10q24.32b" 10 0 0 0 0 Homo sapiens C__34326242_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G hCV34326242 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 GGCATGAACTGATCCGGCTGGTGCC[A/G]CTCCTTCTCATTGTGATGCAGCGCC 104591292 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__30377526_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G hCV30377526 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 CCACTCCTTCTCATTGTGATGCAGC[A/G]CCCACAGATTGATGATAACTTCTGT 104591315 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27861783_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/T hCV27861783 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 ACACCTGGAGTCAACGTTGGCCTTG[A/T]GGGGGATGAGCATAGGGGCCACGGG 104592289 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27536686_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/T H347 rs61754278 hCV27536686 Mis-sense Mutation "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 GGCCTCCAGCAGGAGGAGACGGTTA[C/T]GGTCACTGATAGTTGGTGTGCGGCT 104592367 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C___9596613_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G D283 rs1042386 hCV9596613 Silent Mutation "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 TGTGGTTATCTGAAAGCAGCTCTGA[A/G]TCTTGATCTGGGCCAGCATTGCCAT 104592870 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C___2396062_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G hCV2396062 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 AGTATTTTATTCAGCAGATCATTTC[A/G]TATTTTAACATGGCTCTTTAATTTT 104593831 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27540709_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/C hCV27540709 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 TTGTAATTCTGTATGACATTCAACT[A/C]AGGGTCCCCATTCTTGTAGGAGGTA 104594628 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27536065_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/T hCV27536065 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 TTGAAGCAGATCAAGGAGATGACAT[C/T]GGTTACCGCCACGAAGACAGGAAAG 104594679 NCBI Build 37.1 Human "10q24.32,10q24.32b" 10 0 0 0 0 Homo sapiens C__27861781_20 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G hCV27861781 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 TGGGCACCACTTACCATTTGAGGCC[A/G]CCCAGAGAAGTCCTTGCCCTTCTTA 104596833 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27861780_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/C hCV27861780 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 ACTTACCATTTGAGGCCGCCCAGAG[A/C]AGTCCTTGCCCTTCTTAATAAGCAC 104596841 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__12119916_1_ CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/C S65 rs6163 hCV12119916 Silent Mutation "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 CTGTAGTCTTGGTGCCCATACGAAC[A/C]GAATAGATGGGGCCATATTTTTTCT 104596924 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0.39 0.33 0.49 0.4 Homo sapiens C__27861779_10 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 G/T hCV27861779 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 AGTCTTGGTGCCCATACGAACCGAA[G/T]AGATGGGGCCATATTTTTTCTGCAG 104596928 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__12119918_40 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/G W22 rs762563 hCV12119918 Mis-sense Mutation "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 GGCTCTTGGGGTACTTGGCACCAGG[C/G]CACCTTCTCTTGGGCCAAAACAAAT 104597053 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C__27540617_30 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 C/T hCV27540617 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 TGGCACCAGGGCACCTTCTCTTGGG[C/T]CAAAACAAATAAGCTAGGGTAAGCA 104597068 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0 0 0 0 Homo sapiens C___2852784_30 CYP17A1 CPT7|CYP17|S17AH|P450C17|RP11-753C18.1 A/G rs743572 hCV2852784 UTR 5 "cytochrome P450, family 17, subfamily A, polypeptide 1" NM_000102 GGTGCCGGCAGGCAAGATAGACAGC[A/G]GTGGAGTAGAAGAGCTGTGGCAACT 104597152 NCBI Build 37.1 Human "10q24.32b,10q24.32" 10 0.39 0.33 0.49 0.4 Homo sapiens C__16085725_10 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 A/G | rs2468110 hCV16085725 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 AGATAGAGCGTTGAACAAACCCAAT[A/G]GTCTTGGCCCTCAAAAAGCTTTATG 105152391 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.3 0.46 0.42 0.44 Homo sapiens C___8699206_20 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 A/G | rs1565814 hCV8699206 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 GTGGACTATTTGTACACATACACAC[A/G]TGCACACCCTCTCACGTCCTCCAGA 105152960 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.03 0.02 0.2 0.14 Homo sapiens C__15805426_20 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 C/T | rs2463018 hCV15805426 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 TCACGTCCTCCAGAGGCTGAAAGAC[C/T]ATCAGCATCTTGGTAACTGCCATGC 105152997 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.27 0.21 0.17 0.33 Homo sapiens C__30634328_10 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 G/T | rs3782418 hCV30634328 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 TAATAGTTTTAATAATAGGGGAGGG[G/T]GGGATGGGGTGTGGGTAAGTTTTGC 105153252 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0 0 0.16 0.07 Homo sapiens C___1207700_20 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 C/T | rs903247 hCV1207700 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 TATACCCTTGATGGATGGAGATTTA[C/T]GCAATGTGTTTTACTGGGTAGAGTG 105153570 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.32 0.41 0.42 0.44 Homo sapiens C___1207698_20 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 A/G | rs2463437 hCV1207698 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 AGTCTCCATCTGGTTTATAGCAACA[A/G]AGGTACTTTATTTAATGAAGCAATG 105154087 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.29 0.37 0.4 0.41 Homo sapiens C___1207697_20 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 C/T | rs2453155 hCV1207697 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 ATGGTTCTAATCCTGGATACTGCCA[C/T]GGACTACAATTCTATCCCTCCCAGA 105154135 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.32 0.38 0.39 0.49 Homo sapiens C__29093564_10 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 C/T | rs7958885 hCV29093564 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 ACCTGTGGTATCTCAGAGGGGACGT[C/T]CCTCCTCCTCCCTGTGCACCAGGTG 105154962 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0 0 0 0 Homo sapiens C__30634330_20 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 A/G | rs7972699 hCV30634330 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 CACACACACACACAATCTCAGCTGC[A/G]CCATTCTGTGCAATCCCAGTGACCA 105155291 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0 0 0 0 Homo sapiens C___1207695_20 CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 C/T | rs7847 hCV1207695 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 TTTGTGGAGTGTGATTTTCTTTTTT[C/T]ACATATTTGTATGCAGTAGAGAGCC 105155605 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.28 0.22 0.17 0.33 Homo sapiens C___8699217_1_ CHST11 C4ST|C4ST1|C4ST-1|FLJ41682|HSA269537|DKFZp667A035 A/G | rs1048662 hCV8699217 | carbohydrate (chondroitin 4) sulfotransferase 11 NM_001173982|NM_018413 TTTCACATATTTGTATGCAGTAGAG[A/G]GCCTGTTGTAGAAAACGCTCCCTGT 105155627 NCBI Build 37.1 Human "12q23.3b,12q23.3" 12 0.03 0.17 0.21 0.16 Homo sapiens C__31267294_20 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 C/G || rs11509436 hCV31267294 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 AGTCAGGGTCAGCTGATCTACGAGT[C/G]TGCCATCACCTGTGAGTACCTGGAT 106019447 NCBI Build 37.1 Human "10q25.1a,10q25.1" 10 0 0 0 0 Homo sapiens C__11309430_30 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 A/C || rs4925 hCV11309430 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 AGAAGCCAAAATAAAGAAGACTATG[A/C]TGGCCTAAAAGAAGAATTTCGTAAA 106022789 NCBI Build 37.1 Human "10q25.1a,10q25.1" 10 0.24 0.13 0.13 0.09 Homo sapiens C__11741850_20 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 A/G || rs1804834 hCV11741850 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 AAGAAGACTATGCTGGCCTAAAAGA[A/G]GAATTTCGTAAAGAATTTACCAAGC 106022802 NCBI Build 37.1 Human "10q25.1,10q25.1a" 10 0 0 0 0 Homo sapiens C__11309432_20 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 A/G || rs11509438 hCV11309432 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 GAAACTGTGGATGGCAGCCATGAAG[A/G]AAGATCCCACAGTCTCAGCCCTGCT 106027059 NCBI Build 37.1 Human "10q25.1a,10q25.1" 10 0.03 0.04 0.02 0.01 Homo sapiens C__27470180_60 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 C/T || rs78978552 hCV27470180 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 CAGCCATGAAGGAAGATCCCACAGT[C/T]TCAGCCCTGCTTACTAGTGAGAAAG 106027073 NCBI Build 37.1 Human "10q25.1a,10q25.1" 10 0 0 0 0 Homo sapiens C__11741851_80 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 A/C || rs15032 hCV11741851 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 GATCCCACAGTCTCAGCCCTGCTTA[A/C]TAGTGAGAAAGACTGGCAAGGTTTC 106027087 NCBI Build 37.1 Human "10q25.1a,10q25.1" 10 0 0 0 0 Homo sapiens C__31267280_10 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 C/T || rs11509439 hCV31267280 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 CTCTACTTACAGAACAGCCCTGAGG[C/T]CTGTGACTATGGGCTCTGAAGGGGG 106027144 NCBI Build 37.1 Human "10q25.1a,10q25.1" 10 0 0 0 0 Homo sapiens C___8926538_20 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 C/T || rs1045505 hCV8926538 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 GCCCTGAGGCCTGTGACTATGGGCT[C/T]TGAAGGGGGCAGGAGTCAGCAATAA 106027160 NCBI Build 37.1 Human "10q25.1,10q25.1a" 10 0 0 0 0 Homo sapiens C__11741852_20 GSTO1 P28|GSTTLp28|DKFZp686H13163|RP11-99N20.1 A/G || rs7589 hCV11741852 || glutathione S-transferase omega 1 NM_001191002|NM_001191003|NM_004832 GAGGCCTGTGACTATGGGCTCTGAA[A/G]GGGGCAGGAGTCAGCAATAAAGCTA 106027165 NCBI Build 37.1 Human "10q25.1,10q25.1a" 10 0 0.31 0 0 Homo sapiens C__33825558_10 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 A/T | PharmGKB:PA345 rs17036048 hCV33825558 UTR 5|UTR 5 "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 TTTGTTTCTGTTCAATCCGGATTCT[A/T]CCAGTAAAAGCTTCAACTTCCCACA 108905328 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0 0.01 0 0 Homo sapiens C__33825557_10 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 -/C | PharmGKB:PA345 hCV33825557 | "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 AAGTCCTTTCCGTGCCCACTGACCC[-/C]TTGAGTGGGCCTTTGAGCTGCTGAC 108905483 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0 0 0 0 Homo sapiens C__33825548_10 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 C/T I44|I44 PharmGKB:PA345 rs17838479 hCV33825548 Silent Mutation|Silent Mutation "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 AGGCCAAACCAGATGATCTCCTCAT[C/T]TGCACCTACCCTAAAGCAGGTGATT 108910255 NCBI Build 37.1 Human "2q12.3,2q12.3b" 2 0 0.02 0 0 Homo sapiens C__33825544_10 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 A/G Q73|Q73 PharmGKB:PA345 rs17036058 hCV33825544 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 AATGGGGACGTGGAGAAGTGCCAGC[A/G]AGCCATCATCCAACACCGCCATCCT 108910751 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0.01 0.01 0 0 Homo sapiens C__25649025_20 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 C/T H128|H139 PharmGKB:PA345 rs17036091 hCV25649025 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 CTCTTTTCTTACCCCAAAGTTCCTT[C/T]ATGTAGCTCGAAATGCCAAAGACTG 108921036 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0.01 0 0 0 Homo sapiens C__25649029_30 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 G/T A255|A266 PharmGKB:PA345 rs17036104 hCV25649029 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 ATCTATCTTGGACCAGTCAATTTCC[G/T]CCTTCATGAGAAAAGGTGTGTGGGG 108922036 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0.03 0.02 0.08 0.11 Homo sapiens C__33825512_10 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 C/G T282|T293 PharmGKB:PA345 rs45515691 hCV33825512 Mis-sense Mutation|Mis-sense Mutation "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 AATGAGAGGTTTGATGAAATCTATA[C/G]AAGAAAGATGGAAGGAACCTCCATA 108924874 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0 0 0 0 Homo sapiens C___8907012_30 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 A/T | PharmGKB:PA345 rs1047309 hCV8907012 UTR 3|UTR 3 "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 AGTAAAACGTATGACTTGAGTACAA[A/T]AGGATTGTTTTAATCCCCATTATTC 108925184 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0 0 0 0 Homo sapiens C__27488137_30 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 A/G | PharmGKB:PA345 rs3731680 hCV27488137 UTR 3|UTR 3 "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 TAATCCCCATTATTCTGGAAAGTGC[A/G]TCCTAGTCTCCCAGTCTATAACATC 108925220 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0.03 0.01 0.08 0.13 Homo sapiens C___8907011_30 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 C/G | PharmGKB:PA345 rs1047310 hCV8907011 UTR 3|UTR 3 "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 CCATATTTGTCCCAGTTGCAGCCCT[C/G]TTGTTATGTATTTACTCTTCAATTT 108925749 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0 0 0 0 Homo sapiens C___8907009_40 SULT1C2 ST1C1|ST1C2|SULT1C1|humSULTC2 C/G | PharmGKB:PA345 rs1047311 hCV8907009 UTR 3|UTR 3 "sulfotransferase family, cytosolic, 1C, member 2" NM_001056|NM_176825 TATTTGTCCCAGTTGCAGCCCTGTT[C/G]TTATGTATTTACTCTTCAATTTCTT 108925752 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0 0 0 0 Homo sapiens C___8906985_30 SULT1C4 SULT1C|SULT1C2|MGC34422|MGC149521 C/G E5 PharmGKB:PA414 rs1402467 hCV8906985 Mis-sense Mutation "sulfotransferase family, cytosolic, 1C, member 4" NM_006588 TTCTTACACTAATGGCCTTACACGA[C/G]ATGGAGGATTTTACATTTGATGGAA 108994808 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0.31 0.21 0.3 0.05 Homo sapiens C__15970041_50 SULT1C4 SULT1C|SULT1C2|MGC34422|MGC149521 A/G S235 PharmGKB:PA414 rs2293068 hCV15970041 Silent Mutation "sulfotransferase family, cytosolic, 1C, member 4" NM_006588 TAGATAAAATTGTCCATTACACTTC[A/G]TTTGATGTCATGAAACAGAATCCAA 109002737 NCBI Build 37.1 Human "2q12.3b,2q12.3" 2 0 0 0 0 Homo sapiens C___2617802_40 GSTM4 GTM4|GSTM4-4|MGC9247|MGC131945 C/G | rs1010167 hCV2617802 UTR 5|UTR 5 glutathione S-transferase mu 4 NM_000850|NM_147148 TGGCGAGGCCGAGCCCCTCCTAGTG[C/G]TTCCGGACCTTGCTCCCTGAACACT 110198727 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0.48 0.22 0.26 0.33 Homo sapiens C__30633976_10 GSTM4 GTM4|GSTM4-4|MGC9247|MGC131945 C/T I4|I4 rs3191485 hCV30633976 Mis-sense Mutation|Mis-sense Mutation glutathione S-transferase mu 4 NM_000850|NM_147148 ACACCAACCAGCATCATGTCCATGA[C/T]ACTGGGGTACTGGGACATCCGCGGG 110199022 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__33538541_10 GSTM4 GTM4|GSTM4-4|MGC9247|MGC131945 A/C E119|E119 rs3211192 hCV33538541 Mis-sense Mutation|Mis-sense Mutation glutathione S-transferase mu 4 NM_000850|NM_147148 TGGCCAGAGTCTGCTACAGCCCTGA[A/C]TTTGTGAGTCCCTCCCTGGTCTGGA 110200491 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__30633977_10 GSTM4 GTM4|GSTM4-4|MGC9247|MGC131945 A/C K133|K133 rs3211193 hCV30633977 Mis-sense Mutation|Mis-sense Mutation glutathione S-transferase mu 4 NM_000850|NM_147148 CCAGAATACTTGGAGGAACTTCCTA[A/C]AATGATGCAGCACTTCTCACAGTTC 110201473 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__32343546_40 GSTM4 GTM4|GSTM4-4|MGC9247|MGC131945 A/G | hCV32343546 | glutathione S-transferase mu 4 NM_000850|NM_147148 ATGAAGTCCAGCCGCTTCCTCCCAA[A/G]ACCTCTGTACACAAGGGTGGCTGTC 110203836 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__25952525_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 C/T N74|N74 PharmGKB:PA29023 rs592792 hCV25952525 Silent Mutation|Silent Mutation glutathione S-transferase mu 2 (muscle) NM_000848|NM_001142368 GGACTCACAAGATCACCCAGAGCAA[C/T]GCCATCCTGCGGTACATTGCCCGCA 110211956 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0.15 0.22 0 0 Homo sapiens C__11449850_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 A/T | PharmGKB:PA29023 hCV11449850 | glutathione S-transferase mu 2 (muscle) NM_000848|NM_001142368 TGGCCAAACTCTGCTATGACCCAGA[A/T]TTTGTAAGTCCCCCCACCCCACTCC 110212190 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__26628624_60 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 A/C | PharmGKB:PA29023 hCV26628624 | glutathione S-transferase mu 2 (muscle) NM_000848|NM_001142368 AAACTGAAACCAGAATACCTGCAGG[A/C]ACTCCCTGAAATGCTGAAGCTCTAC 110213937 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__26628625_30 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 A/T K134|K134 PharmGKB:PA29023 rs1056799 hCV26628625 Mis-sense Mutation|Mis-sense Mutation glutathione S-transferase mu 2 (muscle) NM_000848|NM_001142368 GAATACCTGCAGGCACTCCCTGAAA[A/T]GCTGAAGCTCTACTCACAGTTTCTG 110213949 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__26628626_50 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 A/G L135|L135 PharmGKB:PA29023 rs1056800 hCV26628626 Silent Mutation|Silent Mutation glutathione S-transferase mu 2 (muscle) NM_000848|NM_001142368 ACCTGCAGGCACTCCCTGAAATGCT[A/G]AAGCTCTACTCACAGTTTCTGGGGA 110213953 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__16171988_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 A/G | PharmGKB:PA29023 hCV16171988 | glutathione S-transferase mu 2 (muscle) NM_000848|NM_001142368 GAGAGAAACCAAGTATTTGAGCCCA[A/G]CTGCCTGGATGCCTTCCCAAACCTG 110214156 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C___8850814_20 GSTM2 GST4|GSTM|GTHMUS|GSTM2-2|MGC117303 C/G | PharmGKB:PA29023 hCV8850814 | glutathione S-transferase mu 2 (muscle) NM_000848|NM_001142368 CCCAAACCTGAAGGACTTCATCTCC[C/G]GATTTGAGGTGATGCCCCCAGCCTC 110214197 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__26020680_10 GSTM1 MU|H-B|GST1|GTH4|GTM1|MU-1|GSTM1-1|MGC26563|GSTM1a-1a|GSTM1b-1b T/C T154| PharmGKB:PA182 rs2071487 hCV26020680 Silent Mutation|Intron glutathione S-transferase mu 1 NM_000561|NM_146421 ATATTCTTGGCCTTCTGCAGATCAC[T/C]TTTGTAGATTTTCTCGTCTATGATG 110233081 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0.02 0 Homo sapiens C__44202997_20 GSTM1 MU|H-B|GST1|GTH4|GTM1|MU-1|GSTM1-1|MGC26563|GSTM1a-1a|GSTM1b-1b C/G | PharmGKB:PA182 rs74837985 hCV44202997 | glutathione S-transferase mu 1 NM_000561|NM_146421 ACCTCCACCGTATATTTGAGCCCAA[C/G]TGCTTGGACGCCTTCCCAAATCTGA 110233138 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0.32 0.07 0.28 0.42 Homo sapiens C__25623491_10 GSTM5 GTM5|GSTM5-5|RP4-735C1.1 C/T L128 rs2229059 hCV25623491 Silent Mutation glutathione S-transferase mu 5 NM_000851 TCAGGAGAAACTGAAGCCAAAATAC[C/T]TGGAGGAACTCCCTGAAAAGCTAAA 110257590 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0.09 0.01 0 0 Homo sapiens C__22272123_10 GSTM5 GTM5|GSTM5-5|RP4-735C1.1 C/T P179 rs2227963 hCV22272123 Mis-sense Mutation glutathione S-transferase mu 5 NM_000851 GAGCCCAAGTGCTTGGACGCCTTCC[C/T]AAACTTGAAGGACTTCATCTCCCGC 110257831 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0.09 0.34 0 0 Homo sapiens C___8847900_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704|RP4-735C1.2 A/C rs1803688 hCV8847900 UTR 3 glutathione S-transferase mu 3 (brain) NM_000849 CTGACCCCTTACGGACAGGATGAAA[A/C]AAAACAAGCTCTGCAAGTCTGCCTC 110279663 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C___3184518_70 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704|RP4-735C1.2 C/T I224 rs7483 hCV3184518 Mis-sense Mutation glutathione S-transferase mu 3 (brain) NM_000849 GCAAGTCTGCCTCCTGCTCAGCATA[C/T]AGGCTTGTTGCCCCACTGGGCCATC 110279701 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0.3 0.11 0.27 0.25 Homo sapiens C__25922626_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704|RP4-735C1.2 A/G X190WXW rs61747616 hCV25922626 Nonsense Mutation glutathione S-transferase mu 3 (brain) NM_000849 GTGCAGGAAACGTCACCTCAAAACG[A/G]CACATGAAAGCCTTCAGGTTTGGGA 110280088 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__26628687_20 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704|RP4-735C1.2 C/T P183 rs1803685 hCV26628687 Silent Mutation glutathione S-transferase mu 3 (brain) NM_000849 AACGGCACATGAAAGCCTTCAGGTT[C/T]GGGAACTCATCCAGGCACTTGGGGT 110280109 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C__27830710_20 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704|RP4-735C1.2 G/T L7 rs67174253 hCV27830710 Mis-sense Mutation glutathione S-transferase mu 3 (brain) NM_000849 CGAATATCCCAGTACCCGAGAACCA[G/T]AGACGACTCGCACGACATGGTGACG 110282891 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0 0 0 0 Homo sapiens C___3184522_30 GSTM3 GST5|GSTB|GTM3|GSTM3-3|MGC3310|MGC3704|RP4-735C1.2 G/T rs1332018 hCV3184522 UTR 5 glutathione S-transferase mu 3 (brain) NM_000849 TGTGAGCGGGAGGGGCTTTATACCC[G/T]ACATAAGGGGGCGGGGCCCACGCGC 110282972 NCBI Build 37.1 Human "1p13.3b,1p13.3" 1 0.44 0.14 0.24 0.12 Homo sapiens C___2547557_30 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G PharmGKB:PA24696 rs886205 hCV2547557 UTR 5 aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 CTCTTCACCTGGAGCATCAGCCGGG[A/G]AGGTCAGGGTCGCCCTGGCTCGGGC 112204427 NCBI Build 37.1 Human "12q24.12b,12q24.12" 12 0.17 0.32 0.22 0.08 Homo sapiens C__31115191_10 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 C/T L105 PharmGKB:PA24696 rs13306164 hCV31115191 Silent Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 GGACGCATCACACAGGGGCCGGCTG[C/T]TGAACCGCCTGGCCGATCTGATCGA 112221055 NCBI Build 37.1 Human "12q24.12b,12q24.12" 12 0 0 0.01 0.03 Homo sapiens C__25943912_20 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G P188 PharmGKB:PA24696 rs58280059 hCV25943912 Silent Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 GTTGTTTGTTGCAGTGGAATTTCCC[A/G]CTCCTGATGCAAGCATGGAAGCTGG 112228249 NCBI Build 37.1 Human "12q24.12b,12q24.12" 12 0.03 0.01 0 0 Homo sapiens C___7527226_30 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/T V337 PharmGKB:PA24696 rs1062136 hCV7527226 Mis-sense Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 GAGGACATCTATGATGAGTTTGTGG[A/T]GCGGAGCGTTGCCCGGGCCAAGTCT 112230513 NCBI Build 37.1 Human "12q24.12b,12q24.12" 12 0 0 0 0 Homo sapiens C___7527224_30 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G G489 PharmGKB:PA24696 rs1064933 hCV7527224 Silent Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 CCTTTGGTGGCTACAAGATGTCGGG[A/G]AGTGGCCGGGAGTTGGGCGAGTACG 112241723 NCBI Build 37.1 Human "12q24.12b,12q24.12" 12 0 0 0 0 Homo sapiens C__11703892_10 ALDH2 ALDM|ALDHI|ALDH-E2|MGC1806 A/G K504 PharmGKB:PA24696 rs671 hCV11703892 Mis-sense Mutation aldehyde dehydrogenase 2 family (mitochondrial) NM_000690 CGAGTACGGGCTGCAGGCATACACT[A/G]AAGTGAAAACTGTGAGTGTGGGACC 112241766 NCBI Build 37.1 Human "12q24.12b,12q24.12" 12 0 0 0.22 0.31 Homo sapiens C___2017661_30 SLC16A1 MCT|HHF7|MCT1|FLJ36745|MGC44475|RP4-580L15.1 A/G | rs7169 hCV2017661 UTR 3|UTR 3 "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" NM_001166496|NM_003051 ATTGAATATAATTCATTGAATGTCT[A/G]TATCTTTCTGCCTCGATTTAAGTGA 113455099 NCBI Build 37.1 Human "1p13.2c,1p13.2" 1 0.37 0.26 0.35 0.43 Homo sapiens C___2017662_30 SLC16A1 MCT|HHF7|MCT1|FLJ36745|MGC44475|RP4-580L15.1 A/T E490|E490 rs1049434 hCV2017662 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" NM_001166496|NM_003051 GACTTTCCTCCTCCTTGGGCCCTCC[A/T]TCTGTGTCTTTCTGGTCCGGAGATT 113456546 NCBI Build 37.1 Human "1p13.2,1p13.2c" 1 0.36 0.26 0.31 0.42 Homo sapiens C__33538986_10 SLC16A1 MCT|HHF7|MCT1|FLJ36745|MGC44475|RP4-580L15.1 C/T P484|P484 rs17852382 hCV33538986 Silent Mutation|Silent Mutation "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" NM_001166496|NM_003051 GCCCTCCATCTGTGTCTTTCTGGTC[C/T]GGAGATTCTGCTGCTTTGGTAACTT 113456564 NCBI Build 37.1 Human "1p13.2c,1p13.2" 1 0 0 0 0 Homo sapiens C__27536061_10 SLC16A1 MCT|HHF7|MCT1|FLJ36745|MGC44475|RP4-580L15.1 C/T | rs72552271 hCV27536061 | "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" NM_001166496|NM_003051 GCTTTGGTAACTTCATTTGGCTTCC[C/T]AGCAACATCTATACTGGTCTCTTCC 113456602 NCBI Build 37.1 Human "1p13.2,1p13.2c" 1 0 0 0 0 Homo sapiens C__33538987_10 SLC16A1 MCT|HHF7|MCT1|FLJ36745|MGC44475|RP4-580L15.1 -/G | hCV33538987 | "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" NM_001166496|NM_003051 CTTTTTCTGCTCGTTTGCTTTCTGT[-/G]TCTTTTGCCAAAAGTCGATAATTGA 113456664 NCBI Build 37.1 Human "1p13.2c,1p13.2" 1 0 0 0 0 Homo sapiens C__25615359_10 SLC16A1 MCT|HHF7|MCT1|FLJ36745|MGC44475|RP4-580L15.1 G/T E347|E347 rs60120345 hCV25615359 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" NM_001166496|NM_003051 TCCAACATAGGTAGTGGATAAAGGT[G/T]CTAGCATATGACACACTCCATTTGC 113459988 NCBI Build 37.1 Human "1p13.2,1p13.2c" 1 0.01 0 0 0 Homo sapiens C__33538994_10 SLC16A1 MCT|HHF7|MCT1|FLJ36745|MGC44475|RP4-580L15.1 C/G A162|A162 rs17852383 hCV33538994 Silent Mutation|Silent Mutation "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" NM_001166496|NM_003051 TACCGAAGAAAACCTGATTGAGGGG[C/G]GCCAGAGTACAGAGGAACACAGGGC 113460542 NCBI Build 37.1 Human "1p13.2c,1p13.2" 1 0 0 0 0 Homo sapiens C___8908998_10 NNMT A/C K36 PharmGKB:PA251 rs1802606 hCV8908998 Mis-sense Mutation nicotinamide N-methyltransferase NM_006169 TGGTTCTAGGCACTCTGCAGAAAGC[A/C]AGATTCTTAAGCACCTTCTGAAAAA 114167384 NCBI Build 37.1 Human "11q23.2c,11q23.2" 11 0 0 0 0 Homo sapiens C__31035309_10 NNMT C/T D142 PharmGKB:PA251 rs11569687 hCV31035309 Silent Mutation nicotinamide N-methyltransferase NM_006169 CGGTCAAGCAGGTGCTGAAGTGTGA[C/T]GTGACTCAGAGCCAGCCACTGGGGG 114182830 NCBI Build 37.1 Human "11q23.2c,11q23.2" 11 0.01 0 0 0 Homo sapiens C__32983942_10 NNMT -/CG P156 PharmGKB:PA251 rs72559741 hCV32983942 Frame Shift InDel nicotinamide N-methyltransferase NM_006169 ACTGGGGGCCGTCCCCTTACCCCC[-/CG]GGCTGACTGCGTGCTCAGCACACTG 114182872 NCBI Build 37.1 Human "11q23.2c,11q23.2" 11 0 0 0 0 Homo sapiens C___8908992_30 NNMT A/C P245 PharmGKB:PA251 rs1050207 hCV8908992 Mis-sense Mutation nicotinamide N-methyltransferase NM_006169 GGTGATCTCGCAAAGTTATTCTTCC[A/C]CCATGGCCAACAACGAAGGACTTTT 114183137 NCBI Build 37.1 Human "11q23.2c,11q23.2" 11 0 0 0 0 Homo sapiens C__25621370_20 UGT8 CGT|UGT4 G/T L191|L191 rs61733374 hCV25621370 Silent Mutation|Silent Mutation UDP glycosyltransferase 8 NM_001128174|NM_003360 TCCTCACAGACCGCATGAACTTGCT[G/T]CAAAGGATGAAAAATACCGGTGTTT 115544609 NCBI Build 37.1 Human "4q26b,4q26" 4 0 0 0 0 Homo sapiens C__25621360_30 UGT8 CGT|UGT4 A/G I368|I368 rs11098261 hCV25621360 Mis-sense Mutation|Mis-sense Mutation UDP glycosyltransferase 8 NM_001128174|NM_003360 GTTTGAACAGTATTTTTGAAACTAT[A/G]TATCATGGTGTGCCTGTAGTGGGAA 115589302 NCBI Build 37.1 Human "4q26b,4q26" 4 0 0.02 0 0 Homo sapiens C___9152783_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T || PharmGKB:PA378 rs1523130 hCV9152783 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 AATCCAGTATTTCACTTACTCTTTT[C/T]CTTTCCAATATCCTCATGACATTCA 119499507 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0.37 0.19 0.29 0.09 Homo sapiens C___8760913_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || PharmGKB:PA378 rs1523129 hCV8760913 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 TGTCCAGTGGGATTTGTAATCCAAT[A/G]CCTCCTAGCCCTAGCAGAATCCCAT 119499608 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0.31 0 0 Homo sapiens C__30747436_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || PharmGKB:PA378 rs12721602 hCV30747436 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 CCTTGGGAAGTGCAAATTGGATAGA[A/G]AAGAAACCAATTAAAAACAAAACAA 119499856 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0.02 0 0 Homo sapiens C__27504984_30 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T || PharmGKB:PA378 rs3814055 hCV27504984 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 GGTCATTTTTTGGCAATCCCAGGTT[C/T]TCTTTTCTACCTGTTTGCTCAATCG 119500035 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0.48 0.33 0.31 0.1 Homo sapiens C__30747435_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/G || PharmGKB:PA378 rs12721614 hCV30747435 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 GAGCCCTCAGCTGGTCCATCCTCCC[C/G]ACTCCTGGTCAGCCTTCTGTTCTGA 119500372 NCBI Build 37.1 Human "3q13.33,3q13.33a" 3 0 0 0 0 Homo sapiens C__30747434_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G || PharmGKB:PA378 rs12721609 hCV30747434 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 AAATGCACTCAGAATTACTTAGACA[A/G]AGCGGATATTTGCCACTCTCTTCCC 119500683 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0 0 0 Homo sapiens C__30747433_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/G || PharmGKB:PA378 rs12721599 hCV30747433 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 TTAGACAAAGCGGATATTTGCCACT[C/G]TCTTCCCCTTTTCCTGTGTTTTTGT 119500701 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0 0 0 Homo sapiens C__32536680_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq -/G || PharmGKB:PA378 hCV32536680 || "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 CAATGGAGCCGCTTAGTGCCTACAT[-/G]CTGACTTGGACTGAAATATAGGTGA 119500856 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0 0 0 Homo sapiens C__15882283_30 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/C || PharmGKB:PA378 rs2276705 hCV15882283 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 TTTACTTCAGTGGGAATCTCGGCCT[A/C]AGCCTGCAAGCCAAGTGTTCACAGT 119500974 NCBI Build 37.1 Human "3q13.33,3q13.33a" 3 0 0 0.01 0.01 Homo sapiens C____263841_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/C || PharmGKB:PA378 rs1523127 hCV263841 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 AATAAGCTAATACTCCTGTCCTGAA[A/C]AAGGCAGCGGCTCCTTGGTAAAGCT 119501039 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0.42 0.19 0.3 0.1 Homo sapiens C__28979110_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T || PharmGKB:PA378 rs7623520 hCV28979110 UTR 5||UTR 5 "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 AATACTCCTGTCCTGAACAAGGCAG[C/T]GGCTCCTTGGTAAAGCTACTCCTTG 119501047 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0 0 0 Homo sapiens C___8760925_30 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G T12|T51|T12 PharmGKB:PA378 rs1063955 hCV8760925 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 GAGACCCAAAGAAAGCTGGAACCAT[A/G]CTGACTTTGTACACTGTGAGGACAC 119526131 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0 0 0 Homo sapiens C__25599874_40 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G K18|K57|K18 PharmGKB:PA378 rs59371185 hCV25599874 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 GAACCATGCTGACTTTGTACACTGT[A/G]AGGACACAGAGTCTGTTCCTGGAAA 119526149 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0.02 0 0 Homo sapiens C__25599886_40 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T S27|S66|S27 PharmGKB:PA378 rs12721613 hCV25599886 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 GGACACAGAGTCTGTTCCTGGAAAG[C/T]CCAGTGTCAACGCAGATGAGGAAGT 119526176 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0.08 0 0 Homo sapiens C__31747059_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G R36|R75|R36 PharmGKB:PA378 rs12721607 hCV31747059 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 CAGTGTCAACGCAGATGAGGAAGTC[A/G]GAGGTCCCCAAATCTGCCGTGTATG 119526203 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0.01 0.01 0 0 Homo sapiens C__31747056_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T T164|T203|T164 PharmGKB:PA378 rs12721611 hCV31747056 Silent Mutation|Silent Mutation|Silent Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 ACGCTCAGATGAAAACCTTTGACAC[C/T]ACCTTCTCCCATTTCAAGAATTTCC 119530546 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0.05 0 0 Homo sapiens C__31747073_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T G181|G220| PharmGKB:PA378 rs12721600 hCV31747073 Silent Mutation|Silent Mutation|Intron "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 AGCTGCCAGGGGTGCTTAGCAGTGG[C/T]TGCGAGTTGCCAGAGTCTCTGCAGG 119531556 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0 0 0 Homo sapiens C__25599859_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G G278|G317|G241 PharmGKB:PA378 rs12721612 hCV25599859 Silent Mutation|Silent Mutation|Silent Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 AGGACCAGATCTCCCTGCTGAAGGG[A/G]GCCGCTTTCGAGCTGTGTCAACTGA 119533865 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0.04 0 0 Homo sapiens C__27977937_10 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq C/T N293|N332|N256 PharmGKB:PA378 rs4058490 hCV27977937 Silent Mutation|Silent Mutation|Silent Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 AACTGAGATTCAACACAGTGTTCAA[C/T]GCGGAGACTGGAACCTGGGAGTGTG 119533910 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0 0 0 Homo sapiens C__25599848_20 NR1I2 BXR|PAR|PRR|PXR|SAR|SXR|ONR1|PAR1|PAR2|PARq A/G T370|T409|T333 PharmGKB:PA378 rs35761343 hCV25599848 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 1, group I, member 2" NM_003889|NM_022002|NM_033013 GGTGGACCAGCTGCAGGAGCAATTC[A/G]CCATTACTCTGAAGTCCTACATTGA 119534626 NCBI Build 37.1 Human "3q13.33a,3q13.33" 3 0 0.02 0 0 Homo sapiens C__29454112_10 SLC15A2 PEPT2|FLJ33407 G/T G17|G17 PharmGKB:PA35812 rs72551377 hCV29454112 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 TCCAAGGAAACTCTTTTTTCACCTG[G/T]CTCCATTGAAGAGGTACCACCTCGA 121613373 NCBI Build 37.1 Human "3q13.33,3q13.33c" 3 0 0 0 0 Homo sapiens C__29454110_10 SLC15A2 PEPT2|FLJ33407 G/T I28|I28 PharmGKB:PA35812 rs72551378 hCV29454110 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 GAAGAGGTACCACCTCGACCACCTA[G/T]CCCTCCAAAGAAGCCATCTCCGGTG 121613406 NCBI Build 37.1 Human "3q13.33,3q13.33c" 3 0 0 0 0 Homo sapiens C__11311745_30 SLC15A2 PEPT2|FLJ33407 C/T A47|A47 PharmGKB:PA35812 rs1143669 hCV11311745 Silent Mutation|Silent Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 GCTCCAACTATCCACTGAGCATTGC[C/T]TTCATTGTGGTGAATGAATTCTGCG 121615288 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0 0 0 0 Homo sapiens C____385910_30 SLC15A2 PEPT2|FLJ33407 A/G A253|A284 PharmGKB:PA35812 rs2293616 hCV385910 Silent Mutation|Silent Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 AGCGACAGCACTGGCTAGACTGGGC[A/G]GCTGAGAAATATCCAGTAAGTTGGA 121641693 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0.46 0.41 0.33 0.28 Homo sapiens C____385920_30 SLC15A2 PEPT2|FLJ33407 C/T F319|F350 PharmGKB:PA35812 rs2257212 hCV385920 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 CATGGTGTTACAGGTTCTAAATCCC[C/T]TTCTGGTTCTTATCTTCATCCCGTT 121643804 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0.46 0.43 0.32 0.28 Homo sapiens C__11311731_20 SLC15A2 PEPT2|FLJ33407 A/G A356|A387 PharmGKB:PA35812 rs1143670 hCV11311731 Silent Mutation|Silent Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 AAATGGCTGTTGGTATGATCCTAGC[A/G]TGCCTGGCATTTGCAGTTGCGGCAG 121646641 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0.46 0.49 0.32 0.28 Homo sapiens C____385930_60 SLC15A2 PEPT2|FLJ33407 C/T S378|S409 PharmGKB:PA35812 rs1143671 hCV385930 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 CTCTAAGGAAATGGCCCCAGCCCAG[C/T]CAGGTCCCCAGGAGGTTTTCCTACA 121647286 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0.46 0.44 0.3 0.28 Homo sapiens C___7504282_30 SLC15A2 PEPT2|FLJ33407 A/G K478|K509 PharmGKB:PA35812 rs1143672 hCV7504282 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 TTGTAGGTAAAGGATACAGAAAGCA[A/G]AACAACCAATGGGATGACAACCGTG 121648168 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0.46 0.44 0.3 0.28 Homo sapiens C__33192732_10 SLC15A2 PEPT2|FLJ33407 A/G G609|G640 PharmGKB:PA35812 rs17854312 hCV33192732 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 CTTGTGTCATCCCCAGGCTCCCTCT[A/G]GCATGAAATCTGTGCTCCAGGCAGC 121659240 NCBI Build 37.1 Human "3q13.33,3q13.33c" 3 0 0 0 0 Homo sapiens C__11310844_30 SLC15A2 PEPT2|FLJ33407 A/C L673|L704 PharmGKB:PA35812 rs1920314 hCV11310844 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 CTATGTTCCTGTAAAGACAGAGGAT[A/C]TGCGGGGTCCAGCAGATAAGCACAT 121659774 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0 0 0 0 Homo sapiens C__11310843_30 SLC15A2 PEPT2|FLJ33407 C/T | PharmGKB:PA35812 rs1920313 hCV11310843 UTR 3|UTR 3 "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 CCAAGAAGACAAAACTCTGATGACT[C/T]CCTAGATTCTGTCCTGACCCCAATT 121659860 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0 0.08 0 0 Homo sapiens C__30633925_10 SLC15A2 PEPT2|FLJ33407 G/T | PharmGKB:PA35812 rs4388019 hCV30633925 UTR 3|UTR 3 "solute carrier family 15 (H+/peptide transporter), member 2" NM_001145998|NM_021082 CCAATGACAGAAGTTCCAGGACTGG[G/T]TTTCCAGTACATCTTTAAACAAGGC 121660000 NCBI Build 37.1 Human "3q13.33c,3q13.33" 3 0 0 0 0 Homo sapiens C__30459700_20 SLC13A1 NAS1|NaSi-1 A/G rs6962039 hCV30459700 UTR 3 "solute carrier family 13 (sodium/sulfate symporters), member 1" NM_022444 GATATATAATATTTGTACATATTTT[A/G]GGGGTGTATGTGATATTTTGCTACC 122754358 NCBI Build 37.1 Human "7q31.32b,7q31.32" 7 0.28 0.3 0.25 0.41 Homo sapiens C__30405870_20 SLC13A1 NAS1|NaSi-1 A/G M240 rs10231144 hCV30405870 Mis-sense Mutation "solute carrier family 13 (sodium/sulfate symporters), member 1" NM_022444 AGAAGAGTAGGCAATGCACAAACAC[A/G]TAAGTTTACGTGTCACGTGGCCCTT 122787306 NCBI Build 37.1 Human "7q31.32b,7q31.32" 7 0 0.02 0 0 Homo sapiens C__15825757_30 SLC13A1 NAS1|NaSi-1 C/T S174 rs2140516 hCV15825757 Mis-sense Mutation "solute carrier family 13 (sodium/sulfate symporters), member 1" NM_022444 TTCTAGTCCGTGGTTGGTTGATCCG[C/T]TGAAGTAAGTCATCTGAGTGGCCTC 122809234 NCBI Build 37.1 Human "7q31.32,7q31.32b" 7 0.29 0.25 0.5 0.36 Homo sapiens C__25999181_20 ABCB9 TAPL|hABCB9|KIAA1520|EST122234 C/T L541L|L584L|L584L rs61747213 hCV25999181 Silent Mutation|Silent Mutation|Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 9" NM_019624|NM_019625|NM_203444 CGAACAGCACGGGCTCCTGGCTCAC[C/T]AGGGAGATCTGGGGAGGAGGGAGCA 123419970 NCBI Build 37.1 Human "12q24.31d,12q24.31" 12 0 0 0 0 Homo sapiens C__25956322_20 ABCB9 TAPL|hABCB9|KIAA1520|EST122234 A/T L475|L518|L518 rs61738645 hCV25956322 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 9" NM_019624|NM_019625|NM_203444 CGCCCTCACCTGCAGGACCTGGGTG[A/T]GGGGCCGAGTGCGGTAGGTGAAGGT 123425370 NCBI Build 37.1 Human "12q24.31d,12q24.31" 12 0 0 0 0 Homo sapiens C__27490798_10 ABCB9 TAPL|hABCB9|KIAA1520|EST122234 C/T M121|M121|M121 rs3803002 hCV27490798 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 9" NM_019624|NM_019625|NM_203444 GCGCCGAGTGAAATGTACGTCCACA[C/T]GAACAGGGCCCAAAACCAGGGGTCC 123444422 NCBI Build 37.1 Human "12q24.31d,12q24.31" 12 0 0 0.02 0.01 Homo sapiens C__25956034_20 ABCB9 TAPL|hABCB9|KIAA1520|EST122234 G/T L92|L92|L92 rs58843120 hCV25956034 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 9" NM_019624|NM_019625|NM_203444 GCTTCACCATGGCATAGATGCCCAC[G/T]AAGAGGCACACGAGGGTGATGACCA 123444507 NCBI Build 37.1 Human "12q24.31d,12q24.31" 12 0 0.01 0 0 Homo sapiens C__12022445_20 ALDH7A1 EPD|PDE|ATQ1|FLJ11738|FLJ92814 A/C hCV12022445 "aldehyde dehydrogenase 7 family, member A1" GCCACCACCAGTGTGCTTTTCTCCT[A/C]CTAGAGAAATAAAAAATAATATCAT 125882091 NCBI Build 37.1 Human "5q23.2e,5q23.2" 5 0 0 0 0 Homo sapiens C___1958277_20 ALDH7A1 EPD|PDE|ATQ1|FLJ11738|FLJ92814 G/T rs12514417 hCV1958277 "aldehyde dehydrogenase 7 family, member A1" TAGCGAACAGAATGCATTTTTACCT[G/T]GAATTTAAAGACATAGAGAATCGGA 125887715 NCBI Build 37.1 Human "5q23.2e,5q23.2" 5 0.09 0 0.08 0.11 Homo sapiens C__26071798_10 ALDH7A1 EPD|PDE|ATQ1|FLJ11738|FLJ92814 C/T rs2306618 hCV26071798 "aldehyde dehydrogenase 7 family, member A1" TCGTGGCCAAGACCTGTCACAATTG[C/T]CGGTTCTACATAATTTCCAGGGCGA 125887796 NCBI Build 37.1 Human "5q23.2e,5q23.2" 5 0.01 0 0.08 0.05 Homo sapiens C__25607785_20 ALDH7A1 EPD|PDE|ATQ1|FLJ11738|FLJ92814 A/G rs57902950 hCV25607785 "aldehyde dehydrogenase 7 family, member A1" CTTACTTTGTGACAGCCACACTAAT[A/G]AGGGAAGTGGTTGGAGCTCCTTTCC 125911132 NCBI Build 37.1 Human "5q23.2e,5q23.2" 5 0 0.07 0 0.06 Homo sapiens C__25607795_10 ALDH7A1 EPD|PDE|ATQ1|FLJ11738|FLJ92814 A/G rs60720055 hCV25607795 "aldehyde dehydrogenase 7 family, member A1" TCCATGCTTCTCTTGCTTTCTTTAC[A/G]GTTTCTTCATAGTCTGCCACACTGG 125928395 NCBI Build 37.1 Human "5q23.2e,5q23.2" 5 0 0.13 0 0 Homo sapiens C__25752592_30 ALDH7A1 EPD|PDE|ATQ1|FLJ11738|FLJ92814 G/T rs58528748 hCV25752592 "aldehyde dehydrogenase 7 family, member A1" TGGCTCGTTGTTAGCAGGGCAATAG[G/T]TCGTAATAACCTTAAAACAAAAGGA 125929086 NCBI Build 37.1 Human "5q23.2e,5q23.2" 5 0 0.01 0 0 Homo sapiens C__27042066_10 ALDH7A1 EPD|PDE|ATQ1|FLJ11738|FLJ92814 A/T rs1049214 hCV27042066 "aldehyde dehydrogenase 7 family, member A1" TGAAGGCGGCAGGCCTGCTCCAAGG[A/T]CCAGAGAGCTTGCTGGTCTTTGCAG 125930831 NCBI Build 37.1 Human "5q23.2e,5q23.2" 5 0 0 0 0 Homo sapiens C__25640561_20 CHST13 C4ST3|MGC119278|MGC119279|MGC119281 C/T D154 rs58576050 hCV25640561 Silent Mutation carbohydrate (chondroitin 4) sulfotransferase 13 NM_152889 CTGGCCGCCTGCCCTCACTGGCCGA[C/T]TTCAGCCCCGCCGAGATCAACCGGC 126260857 NCBI Build 37.1 Human "3q21.3a,3q21.3" 3 0 0.06 0 0 Homo sapiens C___1935704_10 CHST13 C4ST3|MGC119278|MGC119279|MGC119281 C/T V271 rs1056523 hCV1935704 Mis-sense Mutation carbohydrate (chondroitin 4) sulfotransferase 13 NM_152889 GTCGTGGGCAAGTTCGAGACGCTGG[C/T]GGAGGACGCGGCCTTCGTGCTGGGC 126261207 NCBI Build 37.1 Human "3q21.3a,3q21.3" 3 0.2 0.17 0.22 0.33 Homo sapiens C___1935705_40 CHST13 C4ST3|MGC119278|MGC119279|MGC119281 G/A Q317 rs1056522 hCV1935705 Mis-sense Mutation carbohydrate (chondroitin 4) sulfotransferase 13 NM_152889 CGGGACATCAGCCCCTTCTACCAGC[G/A]GCGCCTCTTCGACCTCTACAAGATG 126261345 NCBI Build 37.1 Human "3q21.3a,3q21.3" 3 0.28 0.5 0.22 0.33 Homo sapiens C__31237973_10 SLC22A4 OCTN1|MGC34546|MGC40524 A/T PharmGKB:PA332 rs11568501 hCV31237973 UTR 5 "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 CCGTAGTTGCAAGTTTCGGAGCGGC[A/T]GTGGGAAGCATGCGGGACTACGACG 131630300 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__31237972_60 SLC22A4 OCTN1|MGC34546|MGC40524 C/T C113 PharmGKB:PA332 rs11568502 hCV31237972 Silent Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 TGGGGCAGCTGGAGCAGGAGAGCTG[C/T]CTGGATGGCTGGGAGTTCAGCCAGG 131630648 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__26479224_10 SLC22A4 OCTN1|MGC34546|MGC40524 C/G V148 PharmGKB:PA332 rs398064 hCV26479224 Mis-sense Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 CTGGAAGGTGCCCCTCACCACCTCC[C/G]TGTTCTTCGTAGGCGTGCTCCTCGG 131647902 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C___2390961_20 SLC22A4 OCTN1|MGC34546|MGC40524 G/T PharmGKB:PA332 rs455649 hCV2390961 Intron "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 GTTTTGTGTTATACTGCATTCTCTA[G/T]GTTTGGCAGGAAGAACGTTCTCTTC 131649306 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__26479221_10 SLC22A4 OCTN1|MGC34546|MGC40524 C/G H180 PharmGKB:PA332 rs456392 hCV26479221 Mis-sense Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 TTCTCTTCGCAACCATGGCTGTACA[C/G]ACTGGCTTCAGCTTCCTGCAGATTT 131649349 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__31237964_10 SLC22A4 OCTN1|MGC34546|MGC40524 C/T I202 PharmGKB:PA332 rs11568498 hCV31237964 Silent Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 AGATGTTCACTGTGTTATTTGTCAT[C/T]GTGGGCATGGGCCAGATCTCCAACT 131649415 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__31237960_10 SLC22A4 OCTN1|MGC34546|MGC40524 C/T X282 PharmGKB:PA332 rs11568503 hCV31237960 Nonsense Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 TTATAGGTTCATTCCTGAATCTCCC[C/T]GATGGCTGATATCCCAGAGAAGATT 131662989 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C___3170445_1_ SLC22A4 OCTN1|MGC34546|MGC40524 C/T T306 PharmGKB:PA332 rs272893 hCV3170445 Mis-sense Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 CAAAAAGCTGCAAAAATGAACAACA[C/T]AGCTGTACCAGCAGTGATATTTGAT 131663062 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0.36 0.26 0.29 0.27 Homo sapiens C__33291755_10 SLC22A4 OCTN1|MGC34546|MGC40524 -/C PharmGKB:PA332 hCV33291755 "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 TTTTGGTTACAGGAGCTAAATCCCC[-/C]TGAAGCAGCAGAAAGCTTTCATTCT 131667462 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__33291748_10 SLC22A4 OCTN1|MGC34546|MGC40524 C/G V411 PharmGKB:PA332 rs17852518 hCV33291748 Silent Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 CAGTACTGTTCTGGGGAGGAGGTGT[C/G]CTTCTCTTCATTCAACTGGTACCTG 131670597 NCBI Build 37.1 Human "5q31.1,5q31.1b" 5 0 0 0 0 Homo sapiens C__30633931_10 SLC22A4 OCTN1|MGC34546|MGC40524 A/G E462 PharmGKB:PA332 rs4646201 hCV30633931 Mis-sense Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 ACCCTGGTCAGGAACATGGCGGTGG[A/G]GGTCACATCCACGGCCTCCAGAGTG 131671634 NCBI Build 37.1 Human "5q31.1,5q31.1b" 5 0 0 0 0 Homo sapiens C__11741534_20 SLC22A4 OCTN1|MGC34546|MGC40524 C/G G471 PharmGKB:PA332 rs12777 hCV11741534 Silent Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 TCACATCCACGGCCTCCAGAGTGGG[C/G]AGCATCATTGCCCCCTACTTTGTTT 131671662 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0.11 0.02 0 0 Homo sapiens C__25603189_20 SLC22A4 OCTN1|MGC34546|MGC40524 C/T I500 PharmGKB:PA332 rs61731074 hCV25603189 Silent Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 TCATGGGTAGTCTGACTGTCCTGAT[C/T]GGAATCCTCACCCTTTTTTTCCCTG 131676313 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C___3170459_30 SLC22A4 OCTN1|MGC34546|MGC40524 C/T F503 PharmGKB:PA332 rs1050152 hCV3170459 Mis-sense Mutation "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 TAGTCTGACTGTCCTGATTGGAATC[C/T]TCACCCTTTTTTTCCCTGAAAGTTT 131676320 NCBI Build 37.1 Human "5q31.1,5q31.1b" 5 0.41 0.03 0 0 Homo sapiens C__33291738_10 SLC22A4 OCTN1|MGC34546|MGC40524 -/T PharmGKB:PA332 rs72552721 hCV33291738 Frame Shift InDel "solute carrier family 22 (organic cation/ergothioneine transporter), member 4" NM_003059 CTGATTGGAATCCTCACCCTTTTTT[-/T]CCCTGAAAGTTTGGGAATGACTCTT 131676333 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__26479161_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/G PharmGKB:PA333 rs2631367 hCV26479161 UTR 5 "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GGGCGCGCCTTGCGGCCCAGGCCCG[C/G]AACCTTCCCTGGTCGTGCGCCCTAT 131705458 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0.42 0.49 0 0 Homo sapiens C__26479160_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/C PharmGKB:PA333 rs2631366 hCV26479160 UTR 5 "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CCGCAACCTTCCCTGGTCGTGCGCC[A/C]TATGTAAGGCCAGCCGCGGCAGGAC 131705480 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__11741507_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/C PharmGKB:PA333 rs1045018 hCV11741507 UTR 5 "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CACGCGCAAAGCCCGCCGCGTTCCC[A/C]GACCCCAGGCCGCGCTCTGTGGGCC 131705627 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__27860566_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/G X4 PharmGKB:PA333 rs72552722 hCV27860566 Nonsense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CCTCTGAGGGCGGCATGCGGGACTA[C/G]GACGAGGTGACCGCCTTCCTGGGCG 131705676 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__27860567_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/G P19 PharmGKB:PA333 rs72552723 hCV27860567 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CTGGGCGAGTGGGGGCCCTTCCAGC[C/G]CCTCATCTTCTTCCTGCTCAGCGCC 131705720 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__27860568_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T I28 PharmGKB:PA333 rs72552724 hCV27860568 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CTCATCTTCTTCCTGCTCAGCGCCA[G/T]CATCATCCCCAATGGCTTCACCGGC 131705747 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__27860569_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G S32 PharmGKB:PA333 rs72552725 hCV27860569 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CTGCTCAGCGCCAGCATCATCCCCA[A/G]TGGCTTCACCGGCCTGTCCTCCGTG 131705759 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__33291695_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T L83 PharmGKB:PA333 rs72552726 hCV33291695 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CGCGAGGTGCCCCACAGCTGCCGCC[G/T]CTACCGGCTCGCCACCATCGCCAAC 131705912 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C____559636_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G X132 PharmGKB:PA333 rs72552727 hCV559636 Nonsense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CACCCCCTTTGCTCATCTTGCAGTG[A/G]AACCTGGTGTGTGAGGACGACTGGA 131714072 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__30117359_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T F144 PharmGKB:PA333 rs10040427 hCV30117359 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GTGTGAGGACGACTGGAAGGCCCCA[C/T]TCACAATCTCCTTGTTCTTCGTGGG 131714106 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0.11 0 0 Homo sapiens C__16230575_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T L189 PharmGKB:PA333 rs2405518 hCV16230575 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GACAGGCTTCAGCTTCCTGCAGATC[C/T]TCTCGAAGAATTTTGAGATGTTTGT 131719906 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C____559639_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G PharmGKB:PA333 hCV559639 "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GTAGGCATGGGCCAGATCTCCAACT[A/G]TGTGGCAGCATTTGTCCTGGGTATG 131719973 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__27528158_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T V242 PharmGKB:PA333 rs72552728 hCV27528158 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GGAGTGTGCATATTTTATGCATTTG[G/T]CTACATGGTGCTGCCACTGTTTGCT 131721092 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C____559624_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G L269 PharmGKB:PA333 rs274558 hCV559624 Silent Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 TGGCGCTGACGATGCCGGGGGTGCT[A/G]TGCGTGGCACTCTGGTGGTGAGTGT 131721174 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0.33 0.31 0.28 0.26 Homo sapiens C__27863888_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T R283 PharmGKB:PA333 rs72552729 hCV27863888 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CAGGTTCATCCCTGAGTCCCCCCGA[C/T]GGCTCATCTCTCAGGGACGATTTGA 131722739 NCBI Build 37.1 Human "5q31.1,5q31.1b" 5 0 0 0 0 Homo sapiens C__11741945_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/C D301 PharmGKB:PA333 rs72552730 hCV11741945 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GCAGAGGTGATCATCCGCAAGGCTG[A/C]CAAAGCCAATGGGATTGTTGTGCCT 131722794 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__30633930_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G Q326 PharmGKB:PA333 rs1045019 hCV30633930 Silent Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 TACAAGACCTAAGTTCCAAGAAGCA[A/G]CAGTCCCACAACATTCTGGATCTGC 131724639 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__11741943_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T R351 PharmGKB:PA333 rs68018207 hCV11741943 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GGTCACCATCATGTCCATAATGCTG[C/T]GGTATGTAAAAGAGACCTGCCTGAG 131724712 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__25603178_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/T N358 PharmGKB:PA333 rs61731073 hCV25603178 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 TTTCAGGATGACCATATCAGTGGGC[A/T]ATTTTGGGCTTTCGCTTGATACTCC 131726401 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__27860571_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T X387 PharmGKB:PA333 rs72552731 hCV27860571 Nonsense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CAGCGATGGTTGAAGTCCCAGCATA[G/T]GTGTTGGCCTGGCTGCTGCTGCAAT 131726490 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__27860573_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T M440 PharmGKB:PA333 rs72552732 hCV27860573 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GTGATGGTGGGCAAGTTTGGAGTCA[C/T]GGCTGCCTTTTCCATGGTCTACGTG 131728176 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C____559643_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 G/T F446 PharmGKB:PA333 rs72552733 hCV559643 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 TGGAGTCACGGCTGCCTTTTCCATG[G/T]TCTACGTGTACACAGCCGAGCTGTA 131728193 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C____559644_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 A/G K452 PharmGKB:PA333 rs72552734 hCV559644 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 TTCCATGGTCTACGTGTACACAGCC[A/G]AGCTGTATCCCACAGTGGTGAGAAA 131728211 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C____559645_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/G C467 PharmGKB:PA333 rs60376624 hCV559645 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 AGAAACATGGGTGTGGGAGTCAGCT[C/G]CACAGCATCCCGCCTGGGCAGCATC 131728257 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0.01 0 Homo sapiens C____559646_20 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T L478 PharmGKB:PA333 rs72552735 hCV559646 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 TCCCGCCTGGGCAGCATCCTGTCTC[C/T]CTACTTCGTTTACCTTGGTAAGTCC 131728290 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__31237934_10 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T L508 PharmGKB:PA333 rs11568521 hCV31237934 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 CATCCTGACAGCCATCCTCACCTTG[C/T]TTCTCCCAGAGAGCTTCGGTACCCC 131729439 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0 0 0 Homo sapiens C__25603165_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T S549 PharmGKB:PA333 rs11568525 hCV25603165 Mis-sense Mutation "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 GATGTTAAAAGATGGTCAAGAAAGG[C/T]CCACAATCCTTAAAAGCACAGCCTT 131729935 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0 0.08 0 0 Homo sapiens C___8378380_40 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T PharmGKB:PA333 rs1045020 hCV8378380 UTR 3 "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 AACTGAAGAGGAAAGACTGTCTTGC[C/T]AGAAATGGCCAGCTTGTGCAGACTC 131730011 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0.07 0.05 0 0 Homo sapiens C____559633_30 SLC22A5 CDSP|OCTN2|OCTN2VT|FLJ46769 C/T PharmGKB:PA333 rs274548 hCV559633 UTR 3 "solute carrier family 22 (organic cation/carnitine transporter), member 5" NM_003060 AAGCTGTAATGTGGGTTTTGTTTTA[C/T]TGTTTATTTGTTTGTTGTTGTATCC 131730807 NCBI Build 37.1 Human "5q31.1b,5q31.1" 5 0.18 0.48 0.05 0.08 Homo sapiens C__25614657_20 ALDH8A1 ALDH12|MGC138650|DJ352A20.2|DKFZp779D2315 C/G || rs41286234 hCV25614657 || "aldehyde dehydrogenase 8 family, member A1" NM_001193480|NM_022568|NM_170771 CACATTGCTGGACCACACGGTAGCC[C/G]CCAGCCCATACTTAACGTTGTTGGC 135239758 NCBI Build 37.1 Human "6q23.3a,6q23.3" 6 0 0 0 0 Homo sapiens C__25614644_20 ALDH8A1 ALDH12|MGC138650|DJ352A20.2|DKFZp779D2315 A/G || rs56825243 hCV25614644 || "aldehyde dehydrogenase 8 family, member A1" NM_001193480|NM_022568|NM_170771 CTTATCAGAGCACCTATGCTCACCA[A/G]TGGATCAGAGGGAATGCCGACTTTC 135250236 NCBI Build 37.1 Human "6q23.3a,6q23.3" 6 0 0.03 0 0 Homo sapiens C__25614632_20 ALDH8A1 ALDH12|MGC138650|DJ352A20.2|DKFZp779D2315 A/C || rs3813342 hCV25614632 || "aldehyde dehydrogenase 8 family, member A1" NM_001193480|NM_022568|NM_170771 CTGAACAGCACTCACCGACTCCCAC[A/C]GGGGCCCGCACCGTGTAGTGCATGC 135263557 NCBI Build 37.1 Human "6q23.3a,6q23.3" 6 0.11 0.02 0.3 0.22 Homo sapiens C__25614621_20 ALDH8A1 ALDH12|MGC138650|DJ352A20.2|DKFZp779D2315 C/T || rs56954234 hCV25614621 || "aldehyde dehydrogenase 8 family, member A1" NM_001193480|NM_022568|NM_170771 GAAGTTTTCCAGCATCAAAAGTGCG[C/T]TTGTTCCAGCCATAGCAAGGAAAAA 135271178 NCBI Build 37.1 Human "6q23.3a,6q23.3" 6 0 0.01 0 0 Homo sapiens C___2431875_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*5A,g.-1293G>C|CYP2E1*5B,g.-1293G>C" G/C PharmGKB:PA129 rs3813867 hCV2431875 "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 AACGCCCCTTCTTGGTTCAGGAGAG[G/C]TGCAGTGTTAGGTGCAGCACAACCA 135339605 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0.01 0.08 0.22 0.19 Homo sapiens C__15867697_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*7C,g.-352A>G" G/A PharmGKB:PA129 rs2070672 hCV15867697 "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 TGTGGCTGGAGTTCCCCGTTGTCTA[G/A]CCAGTGCCAAAGGGCAGGACGGTAC 135340548 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0.03 0.11 0.23 0.27 Homo sapiens C___2431871_30 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*7A,g.-333T>A|CYP2E1*7B,g.-333T>A|CYP2E1*7C,g.-333T>A" A/T PharmGKB:PA129 rs2070673 hCV2431871 "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 TGTCTAACCAGTGCCAAAGGGCAGG[A/T]CGGTACCTCACCCCACGTTCTTAAC 135340567 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0.13 0.31 0.44 0.44 Homo sapiens C__25594209_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*7B,g.-71G>T" T/G PharmGKB:PA129 rs6413420 hCV25594209 "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 GGTTGGTGGGTCACCCTCCTTCTCA[T/G]AACACATTATAAAAACCTTCCGTTT 135340829 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0.02 0 0 0 Homo sapiens C__33587926_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E -/C S37F PharmGKB:PA129 rs72559707 hCV33587926 Frame Shift InDel "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 GCTGGAATCTGCCCCCAGGCCCTTT[-/C]CCCGCTTCCCATCATCGGGAACCTC 135341010 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0 0 0 0 Homo sapiens C__33587927_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E -/C I53I PharmGKB:PA129 rs72559709 hCV33587927 Frame Shift InDel "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 CTTCCAGTTGGAATTGAAGAATATT[-/C]CCCAAGTCCTTCACCCGGGTAAGAG 135341059 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0 0 0 0 Homo sapiens C__30633979_20 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*2,g.1132G>A" G/A PharmGKB:PA129 rs72559710 hCV30633979 "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 TTCACGCTGTACGTGGGCTCGCAGC[G/A]CATGGTGGTGATGCACGGCTACAAG 135342034 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0 0 0 0 Homo sapiens C__30443971_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*4,g.4768G>A" G/A I179 PharmGKB:PA129 rs6413419 hCV30443971 Mis-sense Mutation "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 CCTCATCGGCTGCGCGCCCTGCAAC[G/A]TCATAGCCGACATCCTCTTCCGCAA 135345675 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0.02 0.24 0 0 Homo sapiens C___7468401_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E T/C I321 PharmGKB:PA129 rs915909 hCV7468401 Silent Mutation "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 TGATTCTCATGAAATACCCTGAGAT[T/C]GAAGGTAGGCAAGTGACTGAAGGGA 135347397 NCBI Build 37.1 Human "10q26.3,10q26.3f" 10 0 0.1 0 0 Homo sapiens C__30634215_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E T/A PharmGKB:PA129 rs72559712 hCV30634215 Intron "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 CCACCACACCCAGCTGATTAAAAAT[T/A]TAAAAAAATTATTTTGGCTGGGCAC 135348543 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0 0 0 0 Homo sapiens C__16026001_20 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*1B,g.9896C>G" G/C PharmGKB:PA129 rs2070676 hCV16026001 Intron "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 CCTTCACTAAGCAACTCCTTCAACT[G/C]GAAATATACTATCCTATATAGCATA 135351137 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0.09 0.41 0.16 0.18 Homo sapiens C__30634216_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1*3,g.10023G>A" G/A I389 PharmGKB:PA129 rs55897648 hCV30634216 Mis-sense Mutation "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 TCTTTGTTTCTCCTAGGGCACAGTC[G/A]TAGTGCCAACTCTGGACTCTGTTTT 135351264 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0 0 0 0 Homo sapiens C__16026002_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E T/C F421 PharmGKB:PA129 rs2515641 hCV16026002 Silent Mutation "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 ACTTCCTGAATGAAAATGGAAAGTT[T/C]AAGTACAGTGACTATTTCAAGCCAT 135351362 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0.09 0.45 0.16 0.18 Homo sapiens C__61810842_10 CYP2E1 CPE1|CYP2E|P450-J|P450C2E "CYP2E1,g.11112A>T" A/T L457 PharmGKB:PA129 rs28969387 hCV61810842 Mis-sense Mutation "cytochrome P450, family 2, subfamily E, polypeptide 1" NM_000773 CTTTTGTTGTGTGCCATTTTGCAGC[A/T]TTTTAATTTGAAGCCTCTCGTTGAC 135352356 NCBI Build 37.1 Human "10q26.3f,10q26.3" 10 0 0.04 0 0 Homo sapiens C__27838049_20 HNMT HMT|HNMT-S1|HNMT-S2 A/G || PharmGKB:PA190 rs60444277 hCV27838049 |UTR 5|UTR 5 histamine N-methyltransferase NM_001024074|NM_001024075|NM_006895 TGAGCTCTACAAGCCAGCCTTTGTG[A/G]CATGTTAAATTCAAAACAAGCTTAG 138721915 NCBI Build 37.1 Human "2q22.1b,2q22.1" 2 0 0.01 0 0 Homo sapiens C__11650812_20 HNMT HMT|HNMT-S1|HNMT-S2 C/T ||I105 PharmGKB:PA190 rs11558538 hCV11650812 ||Mis-sense Mutation histamine N-methyltransferase NM_001024074|NM_001024075|NM_006895 TGTATTTTAGAGCTTGTAGCCAAGA[C/T]ATCGAACCTCGAGAACGTAAAGTTT 138759649 NCBI Build 37.1 Human "2q22.1b,2q22.1" 2 0.15 0.02 0.05 0.03 Homo sapiens C__32906802_10 HNMT HMT|HNMT-S1|HNMT-S2 -/A || PharmGKB:PA190 rs72549393 hCV32906802 ||Frame Shift InDel histamine N-methyltransferase NM_001024074|NM_001024075|NM_006895 TGAATACCAAAGTAGAATGTTGGAG[-/A]AAAAGGAGCTTCAAAAGTGGGACTT 138759723 NCBI Build 37.1 Human "2q22.1b,2q22.1" 2 0 0 0 0 Homo sapiens C__30985403_10 HNMT HMT|HNMT-S1|HNMT-S2 C/T ||Y198 PharmGKB:PA190 rs11569725 hCV30985403 ||Silent Mutation histamine N-methyltransferase NM_001024074|NM_001024075|NM_006895 TTCCCCAGGATGACCTCTGCCAGTA[C/T]ATCACATCAGATGACCTCACTCAGA 138771415 NCBI Build 37.1 Human "2q22.1b,2q22.1" 2 0 0 0 0 Homo sapiens C__32906816_10 HNMT HMT|HNMT-S1|HNMT-S2 A/G ||D234 PharmGKB:PA190 rs17851810 hCV32906816 ||Mis-sense Mutation histamine N-methyltransferase NM_001024074|NM_001024075|NM_006895 TATATCTGACTGCTTTATTGATGGT[A/G]ATGAAAATGGAGACCTGCTTTGGGA 138771521 NCBI Build 37.1 Human "2q22.1b,2q22.1" 2 0 0 0 0 Homo sapiens C__25634578_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 C/T M18|M18|M18||M18 PharmGKB:PA349 rs61733586 hCV25634578 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation||Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 TTGGAAGTGAATGGCCCCATGGTGA[C/T]GGTGGCCCTGTCAGTGGCTCTCTTG 139529239 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__11623818_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*2,c.182G>A" A/G H61|H61|H61||H61 PharmGKB:PA349 rs6138 hCV11623818 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|UTR 5|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 TTCATTGGAAACTTGACATTTTTCC[A/G]CCAGGTAAGGGCTGTCTTCCATTGG 139572123 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__33346211_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 -/G |||| PharmGKB:PA349 hCV33346211 |||| thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 ATTTTTTATTCCTCCCAGGTACTAT[-/G]CTTGGTCGTCGGATGTTTATTGTTA 139611031 NCBI Build 37.1 Human "7q34,7q34b" 7 0 0 0 0 Homo sapiens C__25634585_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*1B,c.360G>A" A/G S120|S120|S120|S52|S120 PharmGKB:PA349 rs41275018 hCV25634585 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 AGGCGTCGGGTTTGGAGTTCAAGTC[A/G]GTAGCCGACAGCGTTCTGTTTTTAC 139636013 NCBI Build 37.1 Human "7q34b,7q34" 7 0.01 0 0 0 Homo sapiens C__30243506_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1,c.373G>A" A/G I125|I125|I125|I57|I125 PharmGKB:PA349 rs8192833 hCV30243506 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 GGAGTTCAAGTCGGTAGCCGACAGC[A/G]TTCTGTTTTTACGTGACAAAAGATG 139636026 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__11623845_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 A/C I163|I163|I209|I95|I163 PharmGKB:PA349 rs6137 hCV11623845 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CCTCATCAGCCAAGCCTGCGAACTT[A/C]TCCTGGCTCATTTAAAACGCTATGC 139653200 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C___8856110_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 C/G A195|A195|A241|A127|A195 PharmGKB:PA349 rs1042561 hCV8856110 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CCACAGATGTGGTTGCCAGCGTCGC[C/G]TTTGGCACCCCGGTGGACTCCTGGC 139655300 NCBI Build 37.1 Human "7q34,7q34b" 7 0 0 0 0 Homo sapiens C__30633937_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*4,c.737A>G" A/G S246|S246|S292|S178|S246 PharmGKB:PA349 rs55856189 hCV30633937 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 GTCCCACTGGCCCGGATTTTGCCCA[A/G]TAAGAACCGAGACGAACTGAATGGC 139657478 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__11623846_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1,c.772A>G" A/G E258|E258|E304|E190|E258 PharmGKB:PA349 rs5769 hCV11623846 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 AGACGAACTGAATGGCTTTTTTAAC[A/G]AACTCATTAGGAATGTGATTGCCTT 139657513 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0.03 0 0 Homo sapiens C__11623847_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1,c.781A>G" A/G G261|G261|G307|G193|G261 PharmGKB:PA349 rs5770 hCV11623847 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 GAATGGCTTTTTTAACAAACTCATT[A/G]GGAATGTGATTGCCTTGCGGGACCA 139657522 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__31285179_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 A/G M295|M295|M341|M227|M295 PharmGKB:PA349 rs13306052 hCV31285179 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CCGACATTCTGCAAGTCCCATGGGC[A/G]TGCAAGACTTTGACATCGTCAGAGA 139661778 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0.03 0.13 Homo sapiens C__11623848_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 A/C K317|K317|K363|K249|K317 PharmGKB:PA349 rs5771 hCV11623848 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 TGGGTGCAAGCCGAACCCTTCCCGG[A/C]AACACCAGCCCAGCCCTATGGCCAG 139661844 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__11623850_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*5,c.1069C>G" C/G V357|V357|V403|V289|V357 PharmGKB:PA349 rs4529 hCV11623850 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CAACACACTTTCTTTTGCCACCTAC[C/G]TACTGGCCACCAACCCTGACTGCCA 139661964 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0.12 0 0 Homo sapiens C__31285180_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 C/T H379|H379|H425|H311|H379 PharmGKB:PA349 rs13306054 hCV31285180 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 AGGTAGACGTTTTTAAGGAGAAACA[C/T]GTGAGTACAAGTTGGATCCAGTTAC 139662032 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__27509578_40 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1,c.1162G>A" A/G K388|K388|K434|K320|K388 PharmGKB:PA349 rs3735354 hCV27509578 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 GATGGCCCCTGAGTTCTGCAGCCTC[A/G]AGGAAGGCCTGCCCTATCTGGACAT 139706915 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0.01 Homo sapiens C__11623853_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 A/G L402|L402|L448|L334|L402 PharmGKB:PA349 rs5761 hCV11623853 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 TGGACATGGTGATTGCAGAGACGCT[A/G]AGGATGTACCCGCCAGCTTTCAGGT 139706959 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0.01 0 0 Homo sapiens C__31285191_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 A/G K410|K410|K456|K342|K410 PharmGKB:PA349 rs13306055 hCV31285191 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CTGAGGATGTACCCGCCAGCTTTCA[A/G]GTGTGTGGTAGCCCCCTCCCCTGCC 139706982 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__11623856_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*6,c.1249C>G" C/G E417|E417|E463|E349|E417 PharmGKB:PA349 rs4528 hCV11623856 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CCTCAGATTCACACGGGAGGCAGCT[C/G]AGGACTGCGAGGTGCTGGGGCAGCG 139715542 NCBI Build 37.1 Human "7q34,7q34b" 7 0 0.06 0 0 Homo sapiens C__31285198_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 C/T C419|C419|C465|C351|C419 PharmGKB:PA349 rs13306049 hCV31285198 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 TCACACGGGAGGCAGCTCAGGACTG[C/T]GAGGTGCTGGGGCAGCGCATCCCCG 139715550 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__11623860_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1,c.1288G>A" A/G T430|T430|T476|T362|T430 PharmGKB:PA349 rs4526 hCV11623860 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 GCTGGGGCAGCGCATCCCCGCAGGC[A/G]CTGTGCTAGAGATGGCCGTGGGTGC 139715581 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0.08 0 0 Homo sapiens C__11623861_30 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 C/T A435|A435|A481|A367|A435 PharmGKB:PA349 rs4527 hCV11623861 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CCGCAGGCGCTGTGCTAGAGATGGC[C/T]GTGGGTGCCCTGCACCATGACCCTG 139715598 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0.08 0 0.01 Homo sapiens C__29720859_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*7,c.1348G>A" A/G K450|K450|K496|K382|K450 PharmGKB:PA349 rs8192868 hCV29720859 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 TGACCCTGAGCACTGGCCAAGCCCG[A/G]AGACCTTCAACCCTGAAAGGTGAGT 139715641 NCBI Build 37.1 Human "7q34b,7q34" 7 0.01 0 0.01 0 Homo sapiens C__11623862_40 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*8,c.1352C>A" A/C N451|N451|N497|N383|N451 PharmGKB:PA349 rs5763 hCV11623862 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CCTGAGCACTGGCCAAGCCCGGAGA[A/C]CTTCAACCCTGAAAGGTGAGTACTG 139715645 NCBI Build 37.1 Human "7q34b,7q34" 7 0.01 0 0 0 Homo sapiens C__30633938_20 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 "CYP5A1*9,c.1397G>A" A/G Q466|Q466|Q512|Q398| PharmGKB:PA349 rs41311778 hCV30633938 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation| thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 ACGGCTGAGGCCCGGCAGCAGCACC[A/G]GCCCTTCACGTACCTGCCCTTCGGG 139717500 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0 0 Homo sapiens C__29775029_10 TBXAS1 TS|TXS|CYP5|THAS|TXAS|CYP5A1|GHOSAL|FLJ52771 A/G Q502|Q502|Q548|Q434| PharmGKB:PA349 rs8192864 hCV29775029 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation| thromboxane A synthase 1 (platelet) NM_001061|NM_001130966|NM_001166253|NM_001166254|NM_030984 CTGCTCCACGTGCTGCACAAGTTCC[A/G]GTTCCAAGCCTGCCCTGAGACCCAG 139717608 NCBI Build 37.1 Human "7q34b,7q34" 7 0 0 0.02 0 Homo sapiens C__11159958_40 NR3C1 GR|GCR|GRL|GCCR C/T |||||| PharmGKB:PA181 rs6193 hCV11159958 |||||| "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TTGGAAATAAACTCTTGTTGTAGGA[C/T]AGAAAGGAATTAGTGTATTATTGGC 142659266 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0.06 0 0 Homo sapiens C__11159956_40 NR3C1 GR|GCR|GRL|GCCR A/G |||||| PharmGKB:PA181 rs6197 hCV11159956 UTR 3|UTR 3|UTR 3|UTR 3|UTR 3|Intron|UTR 3 "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TGACATACAGTTCTAAATCACAAAA[A/G]TCAGTAGCTGAGCTTTCCTGTACCA 142660229 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0 0 0 Homo sapiens C___1046361_10 NR3C1 GR|GCR|GRL|GCCR A/G N766|N766|N766|N766|N766||N767 PharmGKB:PA181 rs6196 hCV1046361 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Intron|Silent Mutation "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GAAACAGAAGTTTTTTGATATTTCC[A/G]TTTGAATATTTTGGTATCTGATTGG 142661490 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0.2 0.12 0.11 0.09 Homo sapiens C__27860313_10 NR3C1 GR|GCR|GRL|GCCR A/C |||||| PharmGKB:PA181 hCV27860313 |||||| "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TTTCAGCTAACATCTCGGGGAATTC[A/C]ATACTCATGGTCTTATCCAAAAATG 142661547 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0 0 0 Homo sapiens C___1046359_40 NR3C1 GR|GCR|GRL|GCCR A/G D678|D678|D678|D678|D678|D678|D679 PharmGKB:PA181 rs258751 hCV1046359 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 CAAATAGCTCTTGGCTCTTCAGACC[A/G]TCCTTAGGAACTAAAAGGTTAAGAT 142662280 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0.09 0.12 0.09 Homo sapiens C___3234239_10 NR3C1 GR|GCR|GRL|GCCR A/G H588|H588|H588|H588|H588|H588|H589 PharmGKB:PA181 rs6194 hCV3234239 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GCAGTAGGGTCATTTGGTCATCCAG[A/G]TGTAAGTTCCTGAAACCTGAATTAA 142678361 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0 0.13 0.08 Homo sapiens C__33877384_10 NR3C1 GR|GCR|GRL|GCCR A/G |||||| PharmGKB:PA181 hCV33877384 |||||| "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 CTTTGCCCATTTCACTGCTGCAATC[A/G]CTTGCCGCCCTCCTAACATGTTGAG 142680085 NCBI Build 37.1 Human "5q31.3,5q31.3d" 5 0 0 0 0 Homo sapiens C__27541057_30 NR3C1 GR|GCR|GRL|GCCR A/T |||||| PharmGKB:PA181 hCV27541057 |||||| "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TCCTAACATGTTGAGCGTAGTCATG[A/T]TCCTCCAAGTTGAGTCTGGAACAGA 142680121 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0 0 0 Homo sapiens C___1046354_30 NR3C1 GR|GCR|GRL|GCCR C/G K517|K517|K517|K517|K517|K517|K518 PharmGKB:PA181 rs33391 hCV1046354 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GTAACGTTGCAGGAACTATTGTTTT[C/G]TTACCAGGATTTTCAGAGGTTTCTT 142680246 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0 0 0 Homo sapiens C__33877375_10 NR3C1 GR|GCR|GRL|GCCR C/T |||||| PharmGKB:PA181 hCV33877375 |||||| "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TCCAGCCTGAAGACATTTTCGATAG[C/T]GGCATGCTGGGCAGTTTTTTCTTCG 142689700 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0 0 0 Homo sapiens C__26841918_10 NR3C1 GR|GCR|GRL|GCCR C/T S365|S365|S365|S365|S365|S365|S365 PharmGKB:PA181 rs1800445 hCV26841918 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GTCATCTCCAGATCCTTGGCACCTA[C/T]TCCAATTTTCGGAACCAACGGGAAT 142779311 NCBI Build 37.1 Human "5q31.3,5q31.3d" 5 0 0 0 0 Homo sapiens C__26841917_40 NR3C1 GR|GCR|GRL|GCCR C/T S363|S363|S363|S363|S363|S363|S363 PharmGKB:PA181 rs56149945 hCV26841917 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TCCAGATCCTTGGCACCTATTCCAA[C/T]TTTCGGAACCAACGGGAATTGGTGG 142779317 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0.06 0 0 0 Homo sapiens C__11159939_20 NR3C1 GR|GCR|GRL|GCCR A/G |||||| PharmGKB:PA181 rs6199 hCV11159939 |||||| "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 TCACTTGGGGCAGTGTTACATTACT[A/G]GGGCTTGACAAAACCAGATCTCCAT 142779601 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0 0 0 Homo sapiens C__11159938_30 NR3C1 GR|GCR|GRL|GCCR A/C V65|V65|V65|V65|V65|V65|V65 PharmGKB:PA181 rs6192 hCV11159938 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" NM_000176|NM_001018074|NM_001018075|NM_001018076|NM_001018077|NM_001020825|NM_001024094 GCATTGCTTACTGAGCCTTTTGGAA[A/C]ATCAACCAAAAGTCTTCGCTGCTTG 142780212 NCBI Build 37.1 Human "5q31.3d,5q31.3" 5 0 0.03 0 0 Homo sapiens C____192196_40 CHST2 C6ST|GST2|GST-2|Gn6ST-1 A/G rs2280083 hCV192196 UTR 5 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 NM_004267 GTGACAGCCGGACAGTCCGCCGGGC[A/G]GTGATCCGGGGCCGCTCCCGGGCGC 142839344 NCBI Build 37.1 Human "3q24a,3q24" 3 0.24 0.22 0.36 0.49 Homo sapiens C__25754847_20 CHST2 C6ST|GST2|GST-2|Gn6ST-1 A/C S464 rs72551383 hCV25754847 Silent Mutation carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 NM_004267 TGAACATGACCAGTGGCTCGGGCTC[A/C]TCCTCCAAGCCTTTCGTGGTATCTG 142841050 NCBI Build 37.1 Human "3q24a,3q24" 3 0 0 0 0 Homo sapiens C___1307419_40 CHST2 C6ST|GST2|GST-2|Gn6ST-1 C/T rs6664 hCV1307419 UTR 3 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 NM_004267 AAGCCGAGGAGGCATTCTTCTAAAG[C/T]AGACTTTTGTGTAAAAAGCAAAGGT 142841740 NCBI Build 37.1 Human "3q24a,3q24" 3 0.35 0.5 0.27 0.38 Homo sapiens C__27915666_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/C | rs4736312 hCV27915666 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GGAAGCACATAACATGTTTGATTTC[A/C]TAGGTTCGCAGCAAGAACAGTTGGA 143953937 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.48 0.4 0.15 0.14 Homo sapiens C___9571602_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | rs1134095 hCV9571602 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GAATGGAACTGGCGTCCTTATAAAA[A/G]AGGTCTCTGTGAGCTGTCTTGCCCT 143954290 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.46 0.4 0.15 0.13 Homo sapiens C__29042869_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs7003319 hCV29042869 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 AGTCTGGCTGGGTACACTCTCAAAC[C/T]GGGTGCTTCCTCTCCCTGCACGGGA 143954747 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.47 0.4 0.15 0.14 Homo sapiens C__27989996_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/C | rs5017237 hCV27989996 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TACACTCTCAAACTGGGTGCTTCCT[A/C]TCCCTGCACGGGAGCACTGGGGAGT 143954759 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__27989997_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 G/A | rs5017238 hCV27989997 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 AACTGGGTGCTTCCTCTCCCTGCAC[G/A]GGAGCACTGGGGAGTGGCCAGTTCA 143954769 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.47 0.42 0.15 0.14 Homo sapiens C____366751_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs5304 hCV366751 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 CTCTTCCATCTCCTGACAGCATCCT[C/T]GGGACCTTCCCCAGGGGACAGCACA 143955051 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.47 0.41 0.15 0.13 Homo sapiens C__26236586_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/T | rs1137487 hCV26236586 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 CTCGGGACCTTCCCCAGGGGACAGC[A/T]CAGGAAGCAGAGGACCCAACACCCA 143955074 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0.01 Homo sapiens C__26236588_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/G | rs1137485 hCV26236588 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GGAAGCAGAGGACCCAACACCCACT[C/G]CTGGAACAAGGCCTGGTCCATGAAA 143955102 NCBI Build 37.1 Human "8q24.3,8q24.3f" 8 0 0 0 0 Homo sapiens C__26236589_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | rs1137484 hCV26236589 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 ACCCAACACCCACTCCTGGAACAAG[A/G]CCTGGTCCATGAAAGATGAGGCCTG 143955113 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236590_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs1137483 hCV26236590 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GGAACAAGGCCTGGTCCATGAAAGA[C/T]GAGGCCTGGGGCATGAGGCTGACAC 143955130 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236591_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs5302 hCV26236591 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TCCATGAAAGATGAGGCCTGGGGCA[C/T]GAGGCTGACACGATCAGCTGGGGAA 143955144 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236592_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs1137481 hCV26236592 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TGAGGCCTGGGGCATGAGGCTGACA[C/T]GATCAGCTGGGGAACACACGTCCCT 143955155 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0.01 0 0 Homo sapiens C__26236593_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs1137480 hCV26236593 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GACACGATCAGCTGGGGAACACACG[C/T]CCCTCGAGACTCAGTTGTATCACTT 143955176 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__27968419_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs5027480 hCV27968419 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TCACTTGAAAATGGGGATGTCAGGA[C/T]AAGTGACCACAGGGGCCTTTTTATT 143955221 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236594_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs5301 hCV26236594 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TACCCTGCAGGACCCTATTCCAGGG[C/T]GACAACTTTCAGAGAGCTCAGGGCA 143955273 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.48 0.4 0.15 0.13 Homo sapiens C__26236595_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 G/T | rs5300 hCV26236595 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 AGGGGTCAGGCTGCAGGAGGGAACT[G/T]GACTGGACTCTGAGATGCTGGGATC 143955338 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__11445714_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs5299 hCV11445714 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 AAGGGACAAAACCACAGCACCCTTG[C/T]ATGGCCACACGAGGAGCCTGGAGCC 143955471 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.47 0.4 0.15 0.12 Homo sapiens C__11445715_30 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/C | rs5298 hCV11445715 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 AGGTGGGGCTGGGGACAAGGTCAGC[A/C]AGATCTTCCCCAGCTGTGCCCTGGC 143955581 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C___8896480_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | rs5297 hCV8896480 UTR 3|UTR 3 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GGTCCTAGAGGCCCTCGGGAGTTCC[A/G]TTTGTGCTGGGGCTGGTTAGACAGA 143955657 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.06 0.2 0 0 Homo sapiens C_____17683_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/C | hCV17683 | "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GATGGCTCTGAAGGTGAGGAGGGGG[A/C]ACATGCTGGGCCTCAATATGAAGCT 143955820 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236596_50 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G T477|T411 rs5296 hCV26236596 Silent Mutation|Silent Mutation "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TGTAGACCATCTTTATGTCCTCTTG[A/G]GTTAGTGTCTCCACCTGGAGGTGTT 143955870 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236597_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G L451| rs5316 hCV26236597 Silent Mutation|Intron "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TCTCTGCCTCTGCCAGGCGCCGCCC[A/G]AGGCACTGGCGCATGCCAAAGCCAA 143956418 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0.02 0 0 Homo sapiens C__27968420_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/G A414| rs4998901 hCV27968420 Mis-sense Mutation|Intron "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 CGCTCAGGCCTCGGGAACAAGGCGG[C/G]GTTGCGACCCAGAGAGTAGAGGAAC 143956531 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__27531291_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | hCV27531291 | "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GCCAGGCTCTCCTGGCGCAGGGCCT[A/G]CTGCACGTTGGGGTTCCGAGCCAGC 143957237 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236612_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T N281|N281 rs5291 hCV26236612 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GATGCTGGTGTACTGTTGAGGGCGG[C/T]TGAAGGCCAGTTCCTGATAGATTTT 143957769 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__27861775_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | hCV27861775 | "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 ATAGATTTTCTGGATACAGTTGTCG[C/T]CTATCCGGGGAGCGGGAGGCAGCCC 143957811 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236620_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/G I160|I160 rs5287 hCV26236620 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 AGAAGTCCCTGGCCACTGCATCCAC[C/G]ATCGGGAGGAACCTCTGCACAGCGT 143958554 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__27528565_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | hCV27528565 | "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 CCCACGATGTTGTCTGTAGGCCACC[C/T]AGGGCTCCAGGCTCATCCTGTGGGG 143960496 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236630_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G D96|D96 rs5284 hCV26236630 Silent Mutation|Silent Mutation "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 TGTCCACCTGTTGCAGCTTCTCCAC[A/G]TCCTCCGGCAGCATCACACACACCA 143960555 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__11446733_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 A/G | rs5283 hCV11446733 | "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 CACACACCATGCCTGCTCCTCCCAA[A/G]TCGTACCTGTGGGGCCAAGCACGAG 143960597 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.5 0.14 0.31 0.33 Homo sapiens C__11609085_10 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T L75|L75 rs6410 hCV11609085 Silent Mutation|Silent Mutation "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 GAGGGCTTTACCTGAAAATGGGCCC[C/T]AGTTCCTGGAAGGTCTGGTGTACTT 143961005 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.5 0.43 0.23 0.19 Homo sapiens C__11446728_40 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T Y10|Y10 rs6405 hCV11446728 Mis-sense Mutation|Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 CAGGGACAGCCAGGGCACTGCCATG[C/T]ACACCTCTGCCTTTGCCCTGAGTGC 143961201 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236635_20 CYP11B1 FHI|CPN1|CYP11B|P450C11|FLJ36771|DKFZp686B05283 C/T | rs6389 hCV26236635 UTR 5|UTR 5 "cytochrome P450, family 11, subfamily B, polypeptide 1" NM_000497|NM_001026213 CTCTGCCTTTGCCCTGAGTGCCATT[C/T]CAATGCTCCCTCCACCCTGTTCAGC 143961231 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__29042878_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T A498 PharmGKB:PA134 rs72554626 hCV29042878 Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 CAAGACTAGTTAATCGCTCTGAAAG[C/T]GAGGAGGGGGGACGTGCCAGGCCTC 143993416 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__11446378_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/C V487 PharmGKB:PA134 rs5317 hCV11446378 Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 GGGGACGTGCCAGGCCTCAATATGA[A/C]GCTGTAGACCATCTTTATGTCCTCT 143993449 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__27861778_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G P461 PharmGKB:PA134 rs72554627 hCV27861778 Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 CCTGCTTACGTGGTGCAGCAGCAGC[A/G]GCATCTCTGCCTCTGCCAGGCGCCG 143993962 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__11607769_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T S435 PharmGKB:PA134 rs4545 hCV11607769 Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 AAGGGCACGTGGTGGAAGTTCCTGC[C/T]GGAGCCCCTGATGTCTAGCCAGCGC 143994041 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0.05 0.44 0.49 Homo sapiens C__11446366_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/T E403 PharmGKB:PA134 rs5315 hCV11446366 Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 ACCCAGCGAGTAGAGGAAAACCTGT[A/T]CCAATGTCTGCGGACGGTGCAGAGC 143994136 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236672_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/T V383 PharmGKB:PA134 rs5312 hCV26236672 Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 CACCAAGTCTGAGCTCACCACTCGC[A/T]CCAAAAACAGACCCACAGGGTAGAG 143994275 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__11446338_50 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T PharmGKB:PA134 rs4543 hCV11446338 "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 CCTTGATGGCTTCTAGTGACAGTTC[C/T]GCCTTCAACAGGAGCTCCGCCACGA 143995743 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.06 0.14 0 0 Homo sapiens C__11446333_50 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T PharmGKB:PA134 rs4536 hCV11446333 "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 ACAGTTCCGCCTTCAACAGGAGCTC[C/T]GCCACGATGCCTGTGTAGTGTTGAG 143995761 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0.04 0.43 0.47 Homo sapiens C__11446332_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T S281 PharmGKB:PA134 rs4537 hCV11446332 Mis-sense Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 GATGCCTGTGTAGTGTTGAGGGCGG[C/T]TGAAGGCCAGTTCCTGGTAGATTTT 143995792 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0.01 0 0 Homo sapiens C__26236680_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G Y275 PharmGKB:PA134 rs5310 hCV26236680 Silent Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 GAGGGCGGTTGAAGGCCAGTTCCTG[A/G]TAGATTTTCTGGATACAGTTGTCAC 143995809 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__30633882_10 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G F168 PharmGKB:PA134 rs4546 hCV30633882 Silent Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 GCACCTTCTTCTTCAGGGCCTGGGA[A/G]AAGTCCCTGGCCACTGCATCCACCA 143996553 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0.46 0.32 0.3 0.31 Homo sapiens C__26236693_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo A/G N82 PharmGKB:PA134 rs72554628 hCV26236693 Silent Mutation "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 CACACACCATGCGTGGTCCTCCCAA[A/G]TTGTACCTGTGGGGCCAAGCAGGAG 143998624 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0 0 Homo sapiens C__26236694_20 CYP11B2 CPN2|ALDOS|CYP11B|CYP11BL|P450C18|P-450C18|P450aldo C/T PharmGKB:PA134 rs5281 hCV26236694 "cytochrome P450, family 11, subfamily B, polypeptide 2" NM_000498 CTGGATGCTGGGGCATGGCTTCAAA[C/T]GGCAGCACCGTCCTAGGGGCCCGAG 143999146 NCBI Build 37.1 Human "8q24.3f,8q24.3" 8 0 0 0.01 0.01 Homo sapiens C__25597089_20 FMO5 RP11-337C18.2 C/A || rs28381223 hCV25597089 || flavin containing monooxygenase 5 NM_001144829|NM_001144830|NM_001461 TCATTGTTGAAGTCATAGAACTACT[C/A]CTTTCAACTACTCTTGTCATCAGAG 146658563 NCBI Build 37.1 Human "1q21.1e,1q21.1" 1 0 0 0 0 Homo sapiens C__32361337_10 FMO5 RP11-337C18.2 A/G ||L457 rs72549314 hCV32361337 Intron|UTR 3|Mis-sense Mutation flavin containing monooxygenase 5 NM_001144829|NM_001144830|NM_001461 CAGTAATAAGTGTAATGCCAGCTTG[A/G]GGTCAGTGAAGGCCAGAGACAGCAG 146658711 NCBI Build 37.1 Human "1q21.1e,1q21.1" 1 0 0 0 0 Homo sapiens C___8719060_20 FMO5 RP11-337C18.2 G/A P351||P351 rs1044848 hCV8719060 Mis-sense Mutation|Intron|Mis-sense Mutation flavin containing monooxygenase 5 NM_001144829|NM_001144830|NM_001461 GGAGGGAAGACCTTTTTATACAGGG[G/A]TATCTTGTTTTTGACCACTTTGACG 146672866 NCBI Build 37.1 Human "1q21.1e,1q21.1" 1 0 0 0 0 Homo sapiens C___8719064_30 FMO5 RP11-337C18.2 T/C || rs894469 hCV8719064 || flavin containing monooxygenase 5 NM_001144829|NM_001144830|NM_001461 CCACTTTGACGGAATCTTCCAGAAA[T/C]GGAAAGTCAAAGCTATAGCCTGTGG 146672906 NCBI Build 37.1 Human "1q21.1e,1q21.1" 1 0.08 0.14 0 0.05 Homo sapiens C__33815760_10 FMO5 RP11-337C18.2 -/T || rs72549315 hCV33815760 Frame Shift InDel|Frame Shift InDel|Frame Shift InDel flavin containing monooxygenase 5 NM_001144829|NM_001144830|NM_001461 GTCAAACCTTTGGTTTATCTTTTTT[-/T]CCAAATATTTGTTTGCTAATGATTG 146680471 NCBI Build 37.1 Human "1q21.1e,1q21.1" 1 0 0 0 0 Homo sapiens C__33815752_10 FMO5 RP11-337C18.2 -/A X203E|E203X|E203X rs72549316 hCV33815752 Frame Shift InDel|Frame Shift InDel|Frame Shift InDel flavin containing monooxygenase 5 NM_001144829|NM_001144830|NM_001461 ACCTGCTTGGCTGTTTGGCTAATCT[-/A]CTACAGCCAGATCCCCTCCAGAATT 146683984 NCBI Build 37.1 Human "1q21.1e,1q21.1" 1 0 0 0 0 Homo sapiens C__25597083_20 FMO5 RP11-337C18.2 T/C E166|E166|E166 rs58351438 hCV25597083 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 5 NM_001144829|NM_001144830|NM_001461 CTGTGGAAGTACTGCCCTTTGAACT[T/C]CTCAATTCCTGCAAGAGAAGGGAAA 146684095 NCBI Build 37.1 Human "1q21.1e,1q21.1" 1 0.02 0 0 0 Homo sapiens C__25964717_20 GPX3 GPx-P|GSHPx-3|GSHPx-P C/T rs8177412 hCV25964717 UTR 5 glutathione peroxidase 3 (plasma) NM_002084 CGCCTAGCGATTGGCTGCAAGGGTC[C/T]CGGCTTGGCCGCGGATTGGTCACAC 150400087 NCBI Build 37.1 Human "5q33.1b,5q33.1" 5 0.11 0.18 0.13 0.17 Homo sapiens C__34333461_10 GPX3 GPx-P|GSHPx-3|GSHPx-P -/G hCV34333461 glutathione peroxidase 3 (plasma) NM_002084 GGCCGCGGATTGGTCACACCCGAGG[-/G]CTTGAAAGGTGGCTGGGAGCGCCGG 150400119 NCBI Build 37.1 Human "5q33.1b,5q33.1" 5 0 0 0 0 Homo sapiens C__25963479_20 GPX3 GPx-P|GSHPx-3|GSHPx-P C/G L13 rs8177413 hCV25963479 Silent Mutation glutathione peroxidase 3 (plasma) NM_002084 TGCAGGCGTCCTGCCTGCTTTCCCT[C/G]CTCCTGGCCGGCTTCGTCTCGCAGA 150400254 NCBI Build 37.1 Human "5q33.1b,5q33.1" 5 0.01 0.06 0.11 0.02 Homo sapiens C__31986173_10 GPX3 GPx-P|GSHPx-3|GSHPx-P C/T L128 rs8177445 hCV31986173 Mis-sense Mutation glutathione peroxidase 3 (plasma) NM_002084 CAGGTATGTCCGACCAGGTGGAGGC[C/T]TTGTCCCTAATTTCCAGCTCTTTGA 150407015 NCBI Build 37.1 Human "5q33.1b,5q33.1" 5 0 0 0 0 Homo sapiens C__29193872_10 ABCB8 MABC1|M-ABC1|EST328128 A/G N39 rs6975981 hCV29193872 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 TACAGGTACTCTGATGGCTACCGCA[A/G]CTCCTCCCTCCTCCGGGCCGTGGCC 150730712 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0 0.08 0 0 Homo sapiens C__25593853_20 ABCB8 MABC1|M-ABC1|EST328128 A/G I135 rs4148844 hCV25593853 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 CCACCTGCTGGTCCTGGGGGTAGCC[A/G]TCGTGGTGAGGCTTTCCCCACTTCT 150730999 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0.02 0.04 0.09 0.02 Homo sapiens C__25593861_20 ABCB8 MABC1|M-ABC1|EST328128 A/G N222 rs61734192 hCV25593861 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 TTGGTTCTTGTCCCATGCCAGACAA[A/G]ACATCACCTTCTTTGACGCCAATAA 150731815 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0 0 0 0 Homo sapiens C___7599638_20 ABCB8 MABC1|M-ABC1|EST328128 A/T S261 rs1140977 hCV7599638 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 CACTCCCTAGGGGCTGCGAAGCTGC[A/T]CCCAGGTGGCAGGCTGCCTGGTGTC 150732683 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0 0 0 0 Homo sapiens C__25593870_10 ABCB8 MABC1|M-ABC1|EST328128 C/T C304 rs17545756 hCV25593870 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 GGGCTCAGGCCTCCGAAAATTGTCT[C/T]GCCAGTGTCAGGAGCAGGTACCGGC 150732812 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0.06 0 0 0.03 Homo sapiens C___2951304_20 ABCB8 MABC1|M-ABC1|EST328128 A/T R328 rs2303926 hCV2951304 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 CCCTGGGCAATGTGCGGACTGTGCG[A/T]GCCTTCGCCATGGAGCAACGGGAAG 150733025 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0.34 0.35 0.37 0.32 Homo sapiens C__25593872_20 ABCB8 MABC1|M-ABC1|EST328128 T/G L452 rs61652080 hCV25593872 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 TGCTGCGTCCCCAAAGAGCAGCTGC[T/G]TGGCTCCGTTACATTTCAGAACGTC 150737688 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0 0.01 0 0 Homo sapiens C__25593852_10 ABCB8 MABC1|M-ABC1|EST328128 A/G I542 rs56198402 hCV25593852 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 CATAACCCCTCACCCACAGGAGCCC[A/G]TCCTGTTTGGGACGACCATCATGGA 150739054 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0.02 0 0.02 0 Homo sapiens C__15972945_10 ABCB8 MABC1|M-ABC1|EST328128 C/G C560 rs2303927 hCV15972945 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 ATCCGCTTTGGGAAGCTGGAAGCTT[C/G]CGATGAAGAGGTGTACACAGCCGCC 150739109 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0 0 0 0 Homo sapiens C__11631018_10 ABCB8 MABC1|M-ABC1|EST328128 C/T S579 rs1063963 hCV11631018 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 CGAATGCTCACGAGTTCATCACCAG[C/T]TTCCCCGAGGGCTACAACACGGTCG 150739167 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0 0 0 0 Homo sapiens C__25951871_10 ABCB8 MABC1|M-ABC1|EST328128 G/T V710 rs59397762 hCV25951871 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 8" NM_007188 GCCCCACCGCCCAAAAAGCCAGAAG[G/T]CCCCAGGAGCCACCAGCACAAGTCC 150742408 NCBI Build 37.1 Human "7q36.1d,7q36.1" 7 0.06 0 0 0.03 Homo sapiens C__30634099_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T F14|F14 PharmGKB:PA329 rs34447885 hCV30634099 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GACATTCTGGAGCAGGTTGGGGAGT[C/T]TGGCTGGTTCCAGAAGCAAGCCTTC 160543008 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.02 0 0 Homo sapiens C__34211645_10 SLC22A1 OCT1|HOCT1|oct1_cds -/C Q18H|H18Q PharmGKB:PA329 rs72552761 hCV34211645 Frame Shift InDel|Frame Shift InDel "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GGTTGGGGAGTCTGGCTGGTTCCAG[-/C]AAGCAAGCCTTCCTCATCTTATGCC 160543022 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__30634098_10 SLC22A1 OCT1|HOCT1|oct1_cds C/G V23|V23 PharmGKB:PA329 rs34570655 hCV30634098 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TGGCTGGTTCCAGAAGCAAGCCTTC[C/G]TCATCTTATGCCTGCTGTCGGCTGC 160543034 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C__30634097_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G D38|D38 PharmGKB:PA329 rs35888596 hCV30634097 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GCTGCCTTTGCGCCCATCTGTGTGG[A/G]CATCGTCTTCCTGGGTTTCACACCT 160543080 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.01 0 0 0 Homo sapiens C__27040059_60 SLC22A1 OCT1|HOCT1|oct1_cds C/G L41|L41 PharmGKB:PA329 rs2297373 hCV27040059 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 CGCCCATCTGTGTGGGCATCGTCTT[C/G]CTGGGTTTCACACCTGACCACCACT 160543090 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__30634096_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T C61|C61 PharmGKB:PA329 rs12208357 hCV30634096 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TCCTGGGGTGGCTGAGCTGAGCCAG[C/T]GCTGTGGCTGGAGCCCTGCGGAGGA 160543148 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.04 0 0 0 Homo sapiens C__30634094_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T R88|R88 PharmGKB:PA329 rs55918055 hCV30634094 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 CGCGGGCGAGGCCTTCCTTGGCCAG[C/T]GCAGGCGCTATGAAGTGGACTGGAA 160543229 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C____928536_30 SLC22A1 OCT1|HOCT1|oct1_cds C/G F160|F160 PharmGKB:PA329 rs683369 hCV928536 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 AGTCCTGTTTGAATGCGGGCTTCTT[C/G]TTTGGCTCTCTCGGTGTTGGCTACT 160551204 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.2 0.01 0.19 0.2 Homo sapiens C__30634093_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T N186|N186 PharmGKB:PA329 rs34134157 hCV30634093 Silent Mutation|Silent Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GTCTCCTGGGAACTGTGCTGGTCAA[C/T]GCGGTGTCGGGCGTGCTCATGGCCT 160553306 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.03 0 0 Homo sapiens C__30634092_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T L189|L189 PharmGKB:PA329 rs34104736 hCV30634092 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GGAACTGTGCTGGTCAACGCGGTGT[C/T]GGGCGTGCTCATGGCCTTCTCGCCC 160553314 NCBI Build 37.1 Human "6q25.3,6q25.3f" 6 0 0 0 0 Homo sapiens C__30634091_10 SLC22A1 OCT1|HOCT1|oct1_cds G/T V220|V220 PharmGKB:PA329 rs36103319 hCV30634091 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GTCAGCAAGGGCAACTGGATGGCTG[G/T]CTACACCCTAAGTAATTATCATGGG 160553407 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0.01 Homo sapiens C__30634090_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G A237|A237 PharmGKB:PA329 rs34163122 hCV30634090 Silent Mutation|Silent Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GCTCGGGCTCCAGAAGAACGGTGGC[A/G]ATCATGTACCAGATGGCCTTCACGG 160555029 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.02 0 0 Homo sapiens C__30250063_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G | PharmGKB:PA329 rs10455862 hCV30250063 Intron|Intron "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 CAGATAGTGATGAGTGGTGTTCGCA[A/G]GTGTGTGCCGGAGTCCCCTCGGTGG 160557251 NCBI Build 37.1 Human "6q25.3,6q25.3f" 6 0 0 0 0 Homo sapiens C__30634088_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T L283|L283 PharmGKB:PA329 rs4646277 hCV30634088 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 ATGAGTGGTGTTCGCAGGTGTGTGC[C/T]GGAGTCCCCTCGGTGGCTGTTATCA 160557260 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__30634087_10 SLC22A1 OCT1|HOCT1|oct1_cds C/G G287|G287 PharmGKB:PA329 rs4646278 hCV30634087 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TCGCAGGTGTGTGCCGGAGTCCCCT[C/G]GGTGGCTGTTATCACAAAAAAGAAA 160557271 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__15877554_40 SLC22A1 OCT1|HOCT1|oct1_cds C/T L341|L341 PharmGKB:PA329 rs2282143 hCV15877554 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TCATTTGCAGACCTGTTCCGCACGC[C/T]GCGCCTGAGGAAGCGCACCTTCATC 160557643 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.1 0.12 0.16 Homo sapiens C__30634086_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G H342|H342 PharmGKB:PA329 rs34205214 hCV30634086 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TTTGCAGACCTGTTCCGCACGCCGC[A/G]CCTGAGGAAGCGCACCTTCATCCTG 160557646 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.02 0 0 Homo sapiens C__30634084_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T I403|I403 PharmGKB:PA329 rs35373824 hCV30634084 Silent Mutation|Silent Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TCACCATTGACCGCGTGGGCCGCAT[C/T]TACCCCATGGCCATGTCAAATTTGT 160560832 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C___8709275_60 SLC22A1 OCT1|HOCT1|oct1_cds G/A V408|V408 PharmGKB:PA329 rs628031 hCV8709275 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 CGTGGGCCGCATCTACCCCATGGCC[G/A]TGTCAAATTTGTTGGCGGGGGCAGC 160560845 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.41 0.24 0.24 0.32 Homo sapiens C__34211613_10 SLC22A1 OCT1|HOCT1|oct1_cds -/GAT I420|I420 PharmGKB:PA329 rs72552763 hCV34211613 Amino Acid InDel|Amino Acid InDel "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GGCGGGGGCAGCCTGCCTCGTCAT[-/GAT]TTTTATCTCACCTGGTAAGTTGGT 160560883 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.14 0.06 0 0 Homo sapiens C__30634082_20 SLC22A1 OCT1|HOCT1|oct1_cds A/G I440|I440 PharmGKB:PA329 rs35956182 hCV30634082 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TCATAATCATGTGTGTTGGCCGAAT[A/G]GGAATCACCATTGCAATACAAATGA 160564616 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C__30634081_10 SLC22A1 OCT1|HOCT1|oct1_cds A/G I461|I461 PharmGKB:PA329 rs34295611 hCV30634081 Mis-sense Mutation|Mis-sense Mutation "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 GAATGCTGAGCTGTACCCCACATTC[A/G]TCAGGTGAGTGCATGGAACAGGGGT 160564677 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.02 0 0 Homo sapiens C__30634080_20 SLC22A1 OCT1|HOCT1|oct1_cds A/G R465| PharmGKB:PA329 rs34059508 hCV30634080 Mis-sense Mutation|Intron "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TCCTTTGTATTTTATCAGGAACCTC[A/G]GAGTGATGGTGTGTTCCTCCCTGTG 160575837 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.03 0 0 0 Homo sapiens C__30634078_10 SLC22A1 OCT1|HOCT1|oct1_cds A/C S549| PharmGKB:PA329 rs16891138 hCV30634078 Silent Mutation|UTR 3 "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 CGATTTACCTTAAGGTCCAAACCTC[A/C]GAACCCTCGGGCACCTGAGAGAGAT 160579596 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.03 0 0 Homo sapiens C__30574601_20 SLC22A1 OCT1|HOCT1|oct1_cds A/G | PharmGKB:PA329 rs9457846 hCV30574601 UTR 3|UTR 3 "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 CGGGCACCTGAGAGAGATGTTTTGC[A/G]GCGATGTCGTGTTGGAGGGATGAAG 160579629 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__30634077_10 SLC22A1 OCT1|HOCT1|oct1_cds C/T | PharmGKB:PA329 rs34108432 hCV30634077 UTR 3|UTR 3 "solute carrier family 22 (organic cation transporter), member 1" NM_003057|NM_153187 TGAGAGAGATGTTTTGCGGCGATGT[C/T]GTGTTGGAGGGATGAAGATGGAGTT 160579637 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__29791972_20 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs8177521 hCV29791972 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 CAACTGCCTACCTTTGCATATTTTC[A/G]GCTTCCTCGATGGTCTCAGGCAAAG 160645751 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C____928498_30 SLC22A2 OCT2|MGC32628|RP11-317M22.2 C/T PharmGKB:PA331 rs316003 hCV928498 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 CCAGACCTCCAGCAACCAAGCCAAG[C/T]ACGCCTGAAAGCCAAACAGATGAAT 160645832 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.32 0.47 0.2 0.2 Homo sapiens C__29539035_10 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs8177520 hCV29539035 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 CACACATTGAGGAACAGATGTGGAC[A/G]CCAAGATTCCTAGAATGCAGGAAAC 160662609 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C___8709389_20 SLC22A2 OCT2|MGC32628|RP11-317M22.2 C/T PharmGKB:PA331 rs3907239 hCV8709389 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 GTCATTCTAAGGAAAATGCACTCAC[C/T]TAATGAATGTGGGGTACAGCTCAGC 160663326 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__25621260_10 SLC22A2 OCT2|MGC32628|RP11-317M22.2 G/T PharmGKB:PA331 rs8177517 hCV25621260 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 CTTCCCAAGCATGAGATAATAATTT[G/T]TAGCCATTGTAGATCTAAGAGGGAA 160663420 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C__30633924_10 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs8177515 hCV30633924 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 ATGCAGCCCAAGGGTAACGGCGTCC[A/G]ATGCGGTCGATGGTGAGGATGATCA 160664680 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.01 0 0 0 Homo sapiens C__30633923_10 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs8177516 hCV30633923 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 GCCCAAGGGTAACGGCGTCCGATGC[A/G]GTCGATGGTGAGGATGATCATGAAG 160664685 NCBI Build 37.1 Human "6q25.3,6q25.3f" 6 0 0.02 0 0 Homo sapiens C__25621250_20 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs58264151 hCV25621250 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 CCAGGTAGATATTGTCACCTGCAAG[A/G]CCCATGTGCATGATGAGGCCCTGGT 160664773 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C__25621248_30 SLC22A2 OCT2|MGC32628|RP11-317M22.2 C/G PharmGKB:PA331 rs8177513 hCV25621248 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 GTGCTTAATGATTCTCATGGCTTCA[C/G]CATTCTTATTCTGGGAGATCAGCCA 160668283 NCBI Build 37.1 Human "6q25.3,6q25.3f" 6 0 0 0 0 Homo sapiens C___3111809_20 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/C PharmGKB:PA331 rs316019 hCV3111809 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 AGCAAGAAGAAGAAGTTGGGCAGAG[A/C]AACTGTGAACTGCAACCACCTCCAG 160670282 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.21 0.1 0.14 0.13 Homo sapiens C__30633922_10 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs8177510 hCV30633922 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 TGCAAGCACAAACATTCTTACTCAG[A/G]ATGTAGCCTATTAACCAGCCTGCTT 160671584 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__25621238_20 SLC22A2 OCT2|MGC32628|RP11-317M22.2 C/T PharmGKB:PA331 rs57371881 hCV25621238 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 GACTGTAGTTAGGAGGCAGAGCTTA[C/T]GGCCAAACCTGCAGGAAGAAAAACA 160671726 NCBI Build 37.1 Human "6q25.3,6q25.3f" 6 0.01 0 0 0 Homo sapiens C__25621236_20 SLC22A2 OCT2|MGC32628|RP11-317M22.2 C/T PharmGKB:PA331 rs8177507 hCV25621236 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 ACCTGTCTGCTATGTAGCCGATACT[C/T]ATAGAGCCAATAAAGAATCCTACAT 160677669 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C__30633920_10 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs8177509 hCV30633920 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 TAGCCGATACTCATAGAGCCAATAA[A/G]GAATCCTACATTCACTGATGACTGG 160677683 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__30633919_80 SLC22A2 OCT2|MGC32628|RP11-317M22.2 G/A PharmGKB:PA331 rs8177504 hCV30633919 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 CGCAGACTCAGCTCGGCCACTCCGG[G/A]GCTCCGGCAGCGGTGGTCAGGGGTG 160679630 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C__31161092_10 SLC22A2 OCT2|MGC32628|RP11-317M22.2 A/G PharmGKB:PA331 rs8177506 hCV31161092 "solute carrier family 22 (organic cation transporter), member 2" NM_003058 CGAGGCTGCCCGACGTGCCCGGAGC[A/G]AGGCTGAGAGCGGCTGCAGCCAGCT 160679836 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__30633897_10 SLC22A3 EMT|EMTH|OCT3|RP11-72O9.3 G/T S116 PharmGKB:PA330 rs8187717 hCV30633897 Mis-sense Mutation "solute carrier family 22 (extraneuronal monoamine transporter), member 3" NM_021977 TCTCAGCTGCGCGGACCCACTCGCC[G/T]CCTTCCCCAACCGCTCGGCTCCCCT 160769797 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.01 0 0 Homo sapiens C___2965938_30 SLC22A3 EMT|EMTH|OCT3|RP11-72O9.3 C/T PharmGKB:PA330 rs668871 hCV2965938 "solute carrier family 22 (extraneuronal monoamine transporter), member 3" NM_021977 ACCCACTCGCCGCCTTCCCCAACCG[C/T]TCGGCTCCCCTTGTGCCGTGCCGCG 160769811 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.45 0.42 0.27 0.3 Homo sapiens C__30042531_10 SLC22A3 EMT|EMTH|OCT3|RP11-72O9.3 C/T F201 PharmGKB:PA330 rs3918291 hCV30042531 Silent Mutation "solute carrier family 22 (extraneuronal monoamine transporter), member 3" NM_021977 GCGTCACTGGGGTTGTGGTGGCCTT[C/T]GCACCAAACTTCCCTGTGTTTGTGA 160828142 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.01 0 0 0 Homo sapiens C__30633894_10 SLC22A3 EMT|EMTH|OCT3|RP11-72O9.3 C/T I400 PharmGKB:PA330 rs8187725 hCV30633894 Mis-sense Mutation "solute carrier family 22 (extraneuronal monoamine transporter), member 3" NM_021977 CCAGGAGCTCTCTTGATCTTACTAA[C/T]CATTGAGCGCCTTGGACGACGCCTC 160858154 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0 0 0 Homo sapiens C__22274188_30 SLC22A3 EMT|EMTH|OCT3|RP11-72O9.3 A/G A411 PharmGKB:PA330 rs2292334 hCV22274188 Silent Mutation "solute carrier family 22 (extraneuronal monoamine transporter), member 3" NM_021977 GCCTTGGACGACGCCTCCCCTTTGC[A/G]GCAAGCAATATAGTGGCAGGGGTGG 160858188 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0.26 0.14 0.42 0.35 Homo sapiens C___2737092_20 SLC22A3 EMT|EMTH|OCT3|RP11-72O9.3 A/G L498 PharmGKB:PA330 rs8187722 hCV2737092 Silent Mutation "solute carrier family 22 (extraneuronal monoamine transporter), member 3" NM_021977 GGCTAGCAGCCGTGTGGCTAGAACT[A/G]CCTCTGATCATCTTTGGTAAGAACT 160864758 NCBI Build 37.1 Human "6q25.3f,6q25.3" 6 0 0.02 0 0 Homo sapiens C__25745084_20 NR1I3 CAR|CAR1|MB67|MGC97144|MGC97209|MGC150433 C/T PharmGKB:PA391 rs36017137 hCV25745084 "nuclear receptor subfamily 1, group I, member 3" GCTCAGCCAGCAGGCCTAGCAACTT[C/T]GCATACAGAAACCTTTGGAGGAAGT 161199704 NCBI Build 37.1 Human "1q23.3a,1q23.3" 1 0 0 0 0 Homo sapiens C__33535914_10 NR1I3 CAR|CAR1|MB67|MGC97144|MGC97209|MGC150433 A/T PharmGKB:PA391 rs66915105 hCV33535914 "nuclear receptor subfamily 1, group I, member 3" CTCTGGGCTTTGGGAGGTGCTCACC[A/T]GGAGAGAAGAGGGCCATGGCAGCCA 161200908 NCBI Build 37.1 Human "1q23.3a,1q23.3" 1 0 0 0 0 Homo sapiens C__25746794_20 NR1I3 CAR|CAR1|MB67|MGC97144|MGC97209|MGC150433 A/G PharmGKB:PA391 rs2307424 hCV25746794 "nuclear receptor subfamily 1, group I, member 3" GAGGGGAGGTCACTCACCGGAAGAC[A/G]GGCAGGTCCTTAGTAAACTTGATGA 161202605 NCBI Build 37.1 Human "1q23.3a,1q23.3" 1 0.43 0.17 0.47 0.47 Homo sapiens C__26626973_20 NR1I3 CAR|CAR1|MB67|MGC97144|MGC97209|MGC150433 C/T PharmGKB:PA391 rs2307425 hCV26626973 "nuclear receptor subfamily 1, group I, member 3" CTCGCCGCAATGCCAGGGCTTCTGC[C/T]GACAGTATCACTGTGCCAGGCAAGA 161203118 NCBI Build 37.1 Human "1q23.3a,1q23.3" 1 0.01 0 0 0 Homo sapiens C__26627191_20 NR1I3 CAR|CAR1|MB67|MGC97144|MGC97209|MGC150433 C/T PharmGKB:PA391 rs2307415 hCV26627191 "nuclear receptor subfamily 1, group I, member 3" AGCTCATCTTCCCTACTGGCCATGA[C/T]GTCACGTGTTGGGGTGGCTGTCACA 161206358 NCBI Build 37.1 Human "1q23.3,1q23.3a" 1 0 0 0 0 Homo sapiens C___1790839_30 ALDH9A1 E3|ALDH4|ALDH7|ALDH9|TMABADH C/T A300 rs11808728 hCV1790839 Silent Mutation "aldehyde dehydrogenase 9 family, member A1" NM_000696 CTTGTGTGAGGAAGTTGGCCATCAG[C/T]GCCCCCTTTACAGCATTGTTCATAT 165648709 NCBI Build 37.1 Human "1q24.1a,1q24.1" 1 0.03 0.16 0.01 0.02 Homo sapiens C__25599727_20 ALDH9A1 E3|ALDH4|ALDH7|ALDH9|TMABADH A/C G224 rs57850528 hCV25599727 Silent Mutation "aldehyde dehydrogenase 9 family, member A1" NM_000696 CCACATTGAAGAGCCCAGGAGGTAC[A/C]CCAGCCTCACTGTAGATTTCAGCCA 165649841 NCBI Build 37.1 Human "1q24.1a,1q24.1" 1 0 0.01 0 0 Homo sapiens C___9578046_10 ALDH9A1 E3|ALDH4|ALDH7|ALDH9|TMABADH C/G T221 rs1065756 hCV9578046 Mis-sense Mutation "aldehyde dehydrogenase 9 family, member A1" NM_000696 GAGCCCAGGAGGTACACCAGCCTCA[C/G]TGTAGATTTCAGCCAGTAGCAATGC 165649851 NCBI Build 37.1 Human "1q24.1,1q24.1a" 1 0 0.06 0.01 0 Homo sapiens C__22271516_20 ALDH9A1 E3|ALDH4|ALDH7|ALDH9|TMABADH A/G I134 rs1143659 hCV22271516 Silent Mutation "aldehyde dehydrogenase 9 family, member A1" NM_000696 ACTCCAGGCACTGCCAGGAAATGTC[A/G]ATGTCCAAGCGGGCCTCAAAGATGG 165652273 NCBI Build 37.1 Human "1q24.1,1q24.1a" 1 0.34 0.24 0 0.01 Homo sapiens C___8813542_1_ ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs496550 hCV8813542 UTR 3 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 AGAAACGTTTGTTGATTGCCTGTTA[C/T]AGACCCGCCTCTGTGTACACCGAGG 169779712 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.44 0.31 0.49 0.28 Homo sapiens C___8813544_1_ ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs473351 hCV8813544 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CCACTTGACATTGGGTTTTCCCTCA[C/T]ATGGACCCTAGTTTCTTTCATTTTC 169779896 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.4 0.31 0.05 0 Homo sapiens C______7825_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T Q1268 PharmGKB:PA374 rs72549394 hCV7825 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GCGATGGGCAATGACAATGCAGGTC[C/T]GACCCTCTCTGGCTTTGTCTAGAGC 169780295 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C___8813563_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T K1186 PharmGKB:PA374 rs1521808 hCV8813563 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TGTTTTGCAGCTGCTATGACTCTTT[C/T]CATGGGAATTTCTTTGGTGTTGTCT 169783728 NCBI Build 37.1 Human "2q31.1,2q31.1a" 2 0 0.06 0 0 Homo sapiens C______5842_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G C1153 PharmGKB:PA374 rs72549395 hCV5842 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TGGGAAACAATTCCAATGTTTGAGC[A/G]GAGGAACTGGACATTTACTTTTTTG 169783827 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__31899154_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs11568366 hCV31899154 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 AGCGGAGGAACTGGACATTTACTTT[C/T]TTGCTGTCATGACCATCTATCATCT 169783849 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.01 0 0 Homo sapiens C__27859364_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G X1090 PharmGKB:PA374 rs72549396 hCV27859364 Nonsense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CCATTCAGAACTTGCGAGTCAGGTC[A/G]AGAAGGATATGTAAATTTACAATCA 169787318 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__31899149_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs11568359 hCV31899149 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CTTGCGAGTCAGGTCGAGAAGGATA[C/T]GTAAATTTACAATCAACAAAATCAA 169787328 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.09 0 0 Homo sapiens C____894448_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G X1057 PharmGKB:PA374 rs72549397 hCV894448 Nonsense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TTGTATACACTGATTGGGGGTTGTC[A/G]GTCCAGCAGTTGAAAAAAGCGTGCA 169788931 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__34242870_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G C1050 PharmGKB:PA374 rs72549398 hCV34242870 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TGTCGGTCCAGCAGTTGAAAAAAGC[A/G]TGCAGCTGATATTTTAGCTTTTGCA 169788952 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C___8813572_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T A1028 PharmGKB:PA374 rs497692 hCV8813572 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 AAGAGAAGGCTCTTCCAAGAGCTGT[C/T]GCACTCAGTACAACTGCAGAGATCA 169789016 NCBI Build 37.1 Human "2q31.1,2q31.1a" 2 0.44 0.3 0.5 0.28 Homo sapiens C____560420_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T R982 PharmGKB:PA374 rs72549399 hCV560420 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CACTGGGCAAAGGCAAAGCAGAATC[C/T]GTAAATATTGGCTTTCTGAATGGCT 169791806 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__34242865_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/G P926 PharmGKB:PA374 rs72549400 hCV34242865 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TCCAGGGCCTGCTTATCTCGAGAGG[C/G]AAATCCTGTCAACATCCTGGTCTGT 169792778 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__31899144_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T A804 PharmGKB:PA374 rs11568373 hCV31899144 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GGGTGAAAAGAGATACACAGCCCAT[C/T]GCTACAAAAAGTAGGCACACACCAT 169801403 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.08 0 0 Homo sapiens C__25634265_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs11568364 hCV25634265 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CCTCTGCTAAAGGTCCTCGCAAGCA[C/T]GTCATCTTCAGTTGCATCTACTCAA 169824983 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.01 0.14 0 0 Homo sapiens C__31899140_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/C PharmGKB:PA374 rs11568371 hCV31899140 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CACAAACCTTACTCAGCACTTCTTG[A/C]ACCATGGCTTCACTCTCATTGTCCA 169826573 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.01 0 0 0 Homo sapiens C___1010680_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G X575 PharmGKB:PA374 rs72549401 hCV1010680 Nonsense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TCCAAAAGCAGAATCTTGGGATTTC[A/G]GATGAGGGCTCTGGCGATAGCTACC 169826641 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C___1010679_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T G482 PharmGKB:PA374 rs72549402 hCV1010679 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GTTAAGAGAGCGAATGTCATGGCCA[C/T]CCACGGTCACCTAGAGAGCATGGGC 169828550 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__34242803_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 -/C PharmGKB:PA374 hCV34242803 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 ATTGAGGAGTTTCTGGAAGACACCC[-/C]ACCATTCCTTCACAGGGGTCATAGA 169830223 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__16182459_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 G/A PharmGKB:PA374 rs2287622 hCV16182459 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 AGCTGTCATTTCCCCTGGTTTAATG[G/A]CCATGTTGAGGTCATTTAGAATCTG 169830328 NCBI Build 37.1 Human "2q31.1,2q31.1a" 2 0.32 0.41 0.2 0.27 Homo sapiens C__31899127_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G F427 PharmGKB:PA374 rs11568360 hCV31899127 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TCACCTCTGGTCTGGAAGGATAATG[A/G]AAGGTCACATTATGGAATTCAATTT 169833114 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__25634254_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs57509552 hCV25634254 "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GGCTTATACATACCCTGTCTATTGT[C/T]TCAAAAATGCTGGTGGCTGCTGCAC 169836388 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.03 0 0 Homo sapiens C__27859363_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/T S336 PharmGKB:PA374 rs72551305 hCV27859363 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CCGTACCAGAAGGCCAGTGCATAAC[A/T]CAAAAAGATGAGACACCACACGAAT 169842697 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__25473309_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T G319 PharmGKB:PA374 rs7563233 hCV25473309 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 ATCCAGTAAAGAATCCCATCACTAT[C/T]CCTTTTCTAATTCCCCAACGCTGGG 169842746 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.32 0 0.01 Homo sapiens C__16182455_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T K299 PharmGKB:PA374 rs2287617 hCV16182455 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CCAATTAACCAACCTTTCAACCTCT[C/T]TTTTCTCACCACCAAAAGCAGCCAC 169847323 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0.01 0 Homo sapiens C__27859362_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/C V238 PharmGKB:PA374 rs72551306 hCV27859362 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 AATAATAACCAAGGTCAGTTTCCAA[A/C]CCCTGAAAAATCCCAACAGGAAACC 169850291 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__31899108_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/C L232 PharmGKB:PA374 rs11568358 hCV31899108 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GTTTCCAACCCCTGAAAAATCCCAA[A/C]AGGAAACCACAGATGGTCGAGGTCA 169850308 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.01 0 0 0 Homo sapiens C__25634304_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T V206 PharmGKB:PA374 rs11568357 hCV25634304 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GCTATGGCATCATTGATTTTATTAA[C/T]ATCACTAGAAACCAGAAAGATTTTG 169850388 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.03 0 0 Homo sapiens C__25634303_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/G V195 PharmGKB:PA374 rs11568365 hCV25634303 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CAGAGAATCTTGTATTCAGCTCCCC[C/G]ACTGAATTGCAGTCAAACCACCCTA 169851885 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__34242774_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T G186 PharmGKB:PA374 rs72551307 hCV34242774 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TGAATTGCAGTCAAACCACCCTATT[C/T]CCATTCTCATTATTCTCCTAAAGTA 169851913 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__25634302_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G I134 PharmGKB:PA374 rs11568377 hCV25634302 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TGGCAAATTTGATCATTTCGCTCTC[A/G]ATGTTCAGCAACCTTCAAAAGAGGG 169853220 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.2 0 0 Homo sapiens C__34242770_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 -/C PharmGKB:PA374 rs72552278 hCV34242770 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 ATTTCGCTCTCGATGTTCAGCAACC[-/C]TTCAAAAGAGGGAAAAGAATGTTCA 169853234 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C__25634286_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G F90 PharmGKB:PA374 rs4148777 hCV25634286 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CTTGTAACTCAACGTCGTAGTCAAT[A/G]AAAACATCTGTCATTGTGCCAAAAA 169869901 NCBI Build 37.1 Human "2q31.1,2q31.1a" 2 0.01 0.03 0.06 0.06 Homo sapiens C__25634285_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G D58 PharmGKB:PA374 rs11568362 hCV25634285 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 AACTTCCCACAAACATCAGCCAAAT[A/G]TCAGTTGATGAAGAAAACCGAAACT 169869997 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.01 0 0 Homo sapiens C__25634284_20 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G L56 PharmGKB:PA374 rs11568361 hCV25634284 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CACAAACATCAGCCAAATGTCAGTT[A/G]ATGAAGAAAACCGAAACTTGAAAAA 169870004 NCBI Build 37.1 Human "2q31.1,2q31.1a" 2 0 0 0 0 Homo sapiens C__27505203_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G D36 PharmGKB:PA374 rs3815675 hCV27505203 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CTCTAACGCCATCACCTTTCTTCTC[A/G]TCTTGTAACCTGATGAGAAAAACAT 169870855 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0.28 0.33 Homo sapiens C__29854200_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G PharmGKB:PA374 rs4148776 hCV29854200 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CTTGTAACCTGATGAGAAAAACATA[A/G]GGATTTAAAGACCACCCTTTCCAAT 169870882 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.02 0.3 0.06 0.06 Homo sapiens C__25634270_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs4148772 hCV25634270 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TTGCAATTATTATCTCTTCTTTCTT[C/T]TTTAATCAAAGTAGCCAAACGAAAG 169874712 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.02 0.03 0.06 0.05 Homo sapiens C__30634101_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs7578587 hCV30634101 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GTATGTAGATTGAAGTACTGATACA[C/T]GCTACACAGATGAACCTCAAAATCA 169877085 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.19 0 0 Homo sapiens C__29330248_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G PharmGKB:PA374 rs7602171 hCV29330248 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 AAGTTTCAGAATGATACTGTATGAT[A/G]CCATTTATGTAAATTGTGTTACCTG 169880178 NCBI Build 37.1 Human "2q31.1,2q31.1a" 2 0.29 0.22 0.17 0.12 Homo sapiens C__27054292_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G PharmGKB:PA374 rs3770602 hCV27054292 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TTGGCTTAGCTCTCCATTTAAAAAG[A/G]TTTCTTTCCACTGGTGTGCAAATAC 169881691 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.29 0.26 0.17 0.13 Homo sapiens C__30634100_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G PharmGKB:PA374 rs4148770 hCV30634100 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TCCTCCATTAAGCACAGGAATACTA[A/G]TCCACTAACCTATTCTCTTTACTTT 169882084 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0.12 0.27 0.26 Homo sapiens C__29673425_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs3770603 hCV29673425 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TCCACTGGCAAATTATTTTTTTTAT[C/T]AGATGAGATGTTGGGAAACCCATAC 169883218 NCBI Build 37.1 Human "2q31.1,2q31.1a" 2 0.06 0.1 0.29 0.16 Homo sapiens C___2034214_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 C/T PharmGKB:PA374 rs4668115 hCV2034214 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 TACAGCTCTTTGCAGAAAATGTCAA[C/T]CCCTGTACTGTGAGATCAGTTCAGG 169884648 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.23 0.24 0.16 0.15 Homo sapiens C__32287216_10 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 G/- PharmGKB:PA374 rs5836218 hCV32287216 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 CAGGGCCTCATGATCCTTACCACTG[G/-]AGAACTTGGGACCTTATCCTAAAGG 169885142 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0 0 0 0 Homo sapiens C___2034213_30 ABCB11 BSEP|PGY4|SPGP|ABC16|BRIC2|PFIC2|PFIC-2 A/G PharmGKB:PA374 rs4148768 hCV2034213 Intron "ATP-binding cassette, sub-family B (MDR/TAP), member 11" NM_003742 GCAATATGTGACTCCCACTGGCTTG[A/G]GTGACCTAAAAACTGAAATTAGATC 169887154 NCBI Build 37.1 Human "2q31.1a,2q31.1" 2 0.07 0.03 0.31 0.18 Homo sapiens C___2461148_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 G/A | rs11578281 hCV2461148 UTR 5|UTR 5 flavin containing monooxygenase 3 NM_001002294|NM_006894 CACAGAAGAAAAGAAGACAAAGAAC[G/A]GGTAGGAAAATTAAAAAGGTAGGAG 171060104 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__27859981_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/G S61|S61 rs72549322 hCV27859981 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AGCATTTACAAATCAGTCTTTTCCA[A/G]CTCTTCCAAAGAGATGATGTGTTTC 171072975 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__27859982_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T T82|T82 rs72549324 hCV27859982 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TTTCCCGATGACTTCCCCAACTTTA[C/T]GCACAACAGCAAGATCCAGGAATAT 171073038 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__30633935_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/G H132|H132 rs12072582 hCV30633935 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 CCAGTGGGATGTTACCACTGAAAGG[C/G]ATGGTAAAAAAGAATCGGCTGTCTT 171076888 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.06 0 0 Homo sapiens C___8698542_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T S147|S147 rs1800822 hCV8698542 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TCTTTGATGCTGTAATGGTTTGTTC[C/T]GGACATCATGTGTATCCCAACCTAC 171076935 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.06 0.13 0.23 0.19 Homo sapiens C___2220255_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T L153|L153 rs72549326 hCV2220255 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GTTTGTTCCGGACATCATGTGTATC[C/T]CAACCTACCAAAAGAGTCCTTTCCA 171076952 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C___2461179_30 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/G K158|K158 rs2266782 hCV2461179 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TCATGTGTATCCCAACCTACCAAAA[A/G]AGTCCTTTCCAGGTAAGGCCAAAAT 171076966 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.44 0.42 0.24 0.2 Homo sapiens C__33321383_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 -/T E202X|E202X rs72549328 hCV33321383 Frame Shift InDel|Frame Shift InDel flavin containing monooxygenase 3 NM_001002294|NM_006894 AATTCGGGCTGTGATATTGCCACAG[-/T]AACTCAGCCGCACAGCAGAACAGGT 171077340 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__11454113_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/G | rs2066534 hCV11454113 | flavin containing monooxygenase 3 NM_001002294|NM_006894 CCGCACAGCAGAACAGGTACTACTC[C/G]CCGGGTACTCGGGTGACTCTCGTTA 171077372 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.28 0.31 0.01 0.01 Homo sapiens C___8698543_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T F239|F239 rs1050902 hCV8698543 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GGGACATGCTGCTCGTCACTCGATT[C/T]GGAACCTTCCTCAAGAACAATTTAC 171080028 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C___8698544_30 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/G M257|M257 rs1736557 hCV8698544 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GACAGCCATCTCTGACTGGTTGTAC[A/G]TGAAGCAGATGAATGCAAGATTCAA 171080080 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.08 0.03 0.17 0.17 Homo sapiens C__29454124_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/T I274|I274 rs72549329 hCV29454124 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GCATGAAAACTATGGCTTGATGCCT[A/T]TAAATGGGTAATGCAGAGCTAAACG 171080131 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__11454111_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T A277|A277 rs2066530 hCV11454111 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AATTGTCTCTGTTTTCCATACAGAG[C/T]CCTGAGGAAAGAGCCTGTATTTAAC 171083149 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.06 0 0 Homo sapiens C___2461184_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T N285|N285 rs909530 hCV2461184 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TCCTGAGGAAAGAGCCTGTATTTAA[C/T]GATGAGCTCCCAGCAAGCATTCTGT 171083174 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.22 0.34 0.44 0.37 Homo sapiens C__11454110_80 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T N302|N302 rs2066536 hCV11454110 Silent Mutation|Silent Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 GTGGCATTGTGTCCGTAAAGCCTAA[C/T]GTGAAGGAATTCACAGAGACCTCGG 171083225 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C___2220257_30 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/G G308|G308 rs2266780 hCV2220257 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AAGCCTAACGTGAAGGAATTCACAG[A/G]GACCTCGGCCATTTTTGAGGATGGG 171083242 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.15 0.01 0.23 0.19 Homo sapiens C___2220258_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 G/T X314|X314 rs72549330 hCV2220258 Nonsense Mutation|Nonsense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 ATTCACAGAGACCTCGGCCATTTTT[G/T]AGGATGGGACCATATTTGAGGGCAT 171083259 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__30633936_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T P360|P360 rs28363581 hCV30633936 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TTATTTAAAGGAGTATTTCCTCCTC[C/T]ACTTGAGAAGTCAACCATAGCAGTG 171083398 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.01 0 0 Homo sapiens C__11454108_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/G Q362|Q362 rs2066532 hCV11454108 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TAAAGGAGTATTTCCTCCTCTACTT[C/G]AGAAGTCAACCATAGCAGTGATTGG 171083403 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.02 0 0 Homo sapiens C__27859983_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/G I434|I434 rs72549332 hCV27859983 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TACAGACAGATTACATTGTTTATAT[A/G]GATGAACTCTCCTCCTTCATTGGGG 171086285 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__11454130_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/G D475|D475 rs72549333 hCV11454130 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AGTCCCTACCAGTTTAGGCTGGTGG[A/G]CCCAGGGCAGTGGCCAGGAGCCAGA 171086407 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C___8698554_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 A/G M486|M486 rs1050906 hCV8698554 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AGTGGCCAGGAGCCAGAAATGCCAT[A/G]CTGACCCAGTGGGACCGGTCGTTGA 171086441 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C___2220260_10 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 C/T W492|W492 rs72549334 hCV2220260 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 AAATGCCATACTGACCCAGTGGGAC[C/T]GGTCGTTGAAACCCATGCAGACACG 171086457 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__25619706_20 FMO3 TMAU|FMOII|MGC34400|dJ127D3.1 G/T G502|G502 rs60306057 hCV25619706 Mis-sense Mutation|Mis-sense Mutation flavin containing monooxygenase 3 NM_001002294|NM_006894 TTGAAACCCATGCAGACACGAGTGG[G/T]CGGGAGACTTCAGAAGCCTTGCTTC 171086488 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.01 0 0 Homo sapiens C___8698563_30 FMO6P FMO6|FLJ27001|RP1-127D3.2 C/T rs1736565 hCV8698563 flavin containing monooxygenase 6 pseudogene AAAGAAGGATCTTTTAAGATACATA[C/T]AGTTTGAGGTAGGGGTCTCATAACT 171112490 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.42 0.28 0.38 0.44 Homo sapiens C__15963696_30 FMO6P FMO6|FLJ27001|RP1-127D3.2 A/G rs2272797 hCV15963696 flavin containing monooxygenase 6 pseudogene TTCATTCATCTCTGACTGGTTATAT[A/G]TCCAGAAGATGAACACGTGGTTTAA 171118840 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.17 0.21 0.24 0.2 Homo sapiens C__25748880_20 FMO6P FMO6|FLJ27001|RP1-127D3.2 A/G rs7889839 hCV25748880 flavin containing monooxygenase 6 pseudogene CTCAGCTGTGTTTGAGGATGGGACC[A/G]TGTTTGAGGCTATCGACTCTGTCAT 171121173 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.16 0.22 0.24 0.18 Homo sapiens C__25748730_30 FMO6P FMO6|FLJ27001|RP1-127D3.2 A/G rs7886938 hCV25748730 flavin containing monooxygenase 6 pseudogene CCATCATGAAAAGCAGAAACAATGA[A/G]GTTACCTTGTTTAAAGGCATCTTCC 171121268 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.16 0.21 0.25 0.18 Homo sapiens C__27830542_20 FMO2 FMO1B1|FLJ40826 C/T rs28369797 hCV27830542 UTR 5 flavin containing monooxygenase 2 (non-functional) NM_001460 CACAGCCACCTCCAACTCTTAAAAA[C/T]GCTTCCAACTGCCTCCCAGCACACA 171154418 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.02 0 0 Homo sapiens C__27846098_20 FMO2 FMO1B1|FLJ40826 A/C rs58582514 hCV27846098 UTR 5 flavin containing monooxygenase 2 (non-functional) NM_001460 CTTCCAACTGCCTCCCAGCACACAA[A/C]CAAGGGAGAAAACTATTCTGTCAAA 171154445 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.01 0 0 0 Homo sapiens C__11454087_30 FMO2 FMO1B1|FLJ40826 A/G G36 rs2020870 hCV11454087 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CCCACTTGCTTTGAGAGAACTGAAG[A/G]TATTGGAGGAGTGTGGAGGTTCAAA 171154959 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.11 0.03 0.1 0.17 Homo sapiens C__30633933_10 FMO2 FMO1B1|FLJ40826 A/G I59 rs55708639 hCV30633933 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CCGAGCAAGTATCTATCAATCTGTC[A/G]TTACCAACACCAGCAAAGAAATGTC 171162516 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__32287191_10 FMO2 FMO1B1|FLJ40826 GAC/- RT70S rs2020868 hCV32287191 Amino Acid InDel flavin containing monooxygenase 2 (non-functional) NM_001460 AGCAAAGAAATGTCCTGTTTCAGT[GAC/-]GACTTTCCAATGCCTGAAGATTTT 171162552 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.11 0.31 0 0 Homo sapiens C__11454081_40 FMO2 FMO1B1|FLJ40826 C/T S81 rs2020860 hCV11454081 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CCAATGCCTGAAGATTTTCCAAACT[C/T]CCTGCATAATTCTAAACTTCTGGAA 171162583 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.1 0.3 0 0 Homo sapiens C__32287192_10 FMO2 FMO1B1|FLJ40826 G/- rs28369860 hCV32287192 Frame Shift InDel flavin containing monooxygenase 2 (non-functional) NM_001460 TTTCTTCAAGACAACTGTCCTTAGT[G/-]TGAGAAAATGTCCAGATTTCTCATC 171165803 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.11 0.31 0 0 Homo sapiens C__25619730_20 FMO2 FMO1B1|FLJ40826 A/C P161 rs61730972 hCV25619730 Silent Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CTCATATCCCACTGAAGTCATTTCC[A/C]GGTGAGACCCGCTGGGATTCCCAGC 171165949 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__16196679_30 FMO2 FMO1B1|FLJ40826 C/T S182 rs2307492 hCV16196679 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CGCCAATACAAGCATCCAGATGGAT[C/T]TGAGGGAAAACGCATCCTGGTGATT 171168545 NCBI Build 37.1 Human "1q24.3,1q24.3a" 1 0.09 0.14 0.02 0.02 Homo sapiens C__30633934_10 FMO2 FMO1B1|FLJ40826 A/G Q238 rs28369895 hCV30633934 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CCTTGGGACTCAGTGTTCCACACCC[A/G]GTTTCGTTCTATGCTCCGCAATGTA 171173089 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.04 0 0 Homo sapiens C__11454080_30 FMO2 FMO1B1|FLJ40826 C/T X249 rs2020866 hCV11454080 Nonsense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 TTCTATGCTCCGCAATGTACTGCCA[C/T]GAACAGCTGTAAAATGGATGATAGA 171173121 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.02 0 0 Homo sapiens C__11454078_30 FMO2 FMO1B1|FLJ40826 A/G G314 rs2020863 hCV11454078 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CTCACAGAAACTTCTGCCATCTTTG[A/G]GGATGGAACAGTGGAGGAGAACATT 171174531 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.1 0.04 0.3 0.27 Homo sapiens C__25922082_30 FMO2 FMO1B1|FLJ40826 A/G A367 rs7536646 hCV25922082 Silent Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CTCACCTGGACAAGTCAACCCTCGC[A/G]TGCATTGGTCTCATCCAGCCCCTAG 171174691 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.14 0 0 Homo sapiens C__32287193_10 FMO2 FMO1B1|FLJ40826 TCAAGCTC/- LKL387R rs72549336 hCV32287193 Frame Shift InDel flavin containing monooxygenase 2 (non-functional) NM_001460 AACTGCTGAACTTCAAGCTCG[TCAAGCTC/-]TTGGGTGACAAGAGTTTTCAAA 171174751 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__25922168_20 FMO2 FMO1B1|FLJ40826 C/G T391 rs28369899 hCV25922168 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 GAACTTCAAGCTCGTTGGGTGACAA[C/G]AGTTTTCAAAGGTAAGTGTGTAGGC 171174762 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.01 0 0 Homo sapiens C__29141661_10 FMO2 FMO1B1|FLJ40826 G/A E402 rs6671692 hCV29141661 Silent Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 TAGGCTTGTGTAGCCTGCCCTCAGA[G/A]AGAACTATGATGATGGACATTATCA 171176879 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.14 0 0 Homo sapiens C__11454076_40 FMO2 FMO1B1|FLJ40826 G/T K413 rs2020865 hCV11454076 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 TGATGATGGACATTATCAAAAGGAA[G/T]GAAAAAAGAATTGACCTGTAAGAAT 171176912 NCBI Build 37.1 Human "1q24.3,1q24.3a" 1 0.1 0.27 0 0 Homo sapiens C__25619737_20 FMO2 FMO1B1|FLJ40826 A/C T431 rs61730973 hCV25619737 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 AGCCAGAGCCAGACGTTGCAGACCA[A/C]TTATGTTGACTACTTGGACGAGCTC 171177968 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__25619738_60 FMO2 FMO1B1|FLJ40826 C/T Q472 rs6661174 hCV25619738 Mis-sense Mutation flavin containing monooxygenase 2 (non-functional) NM_001460 CTATTTCGGACCCTGCAACTCCTAT[C/T]AGTATCGCCTGGTTGGGCCTGGGCA 171178090 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.15 0 0 Homo sapiens C___2461291_40 FMO2 FMO1B1|FLJ40826 A/G rs2020869 hCV2461291 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 CCAGAAATGCCATCTTCACCCAGAA[A/G]CAAAGAATACTGAAGCCACTCAAGA 171178152 NCBI Build 37.1 Human "1q24.3,1q24.3a" 1 0.12 0.15 0.16 0.19 Homo sapiens C__32287194_10 FMO2 FMO1B1|FLJ40826 T/- rs72549337 hCV32287194 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 GGGCCCTGAAGGATTCATCTAATTT[T/-]CTCAGTTTCTTTTCTGTTGAAAATC 171178206 NCBI Build 37.1 Human "1q24.3,1q24.3a" 1 0 0 0 0 Homo sapiens C__29141662_10 FMO2 FMO1B1|FLJ40826 C/T rs6664553 hCV29141662 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 TTATTTCATTTAATTCTCACAACAA[C/T]TCTGTGAAATGGTTACAGCTATTAT 171179025 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.14 0 0 Homo sapiens C___2461292_30 FMO2 FMO1B1|FLJ40826 C/T rs7512785 hCV2461292 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 ACATAGAAAACAGCATTCTTTTTGC[C/T]AAATATGACCAAATTACTTTTATTT 171179287 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.26 0.26 0.25 0.36 Homo sapiens C___2461293_30 FMO2 FMO1B1|FLJ40826 C/T rs7515157 hCV2461293 UTR 3 flavin containing monooxygenase 2 (non-functional) NM_001460 AAGTAGATGCAAAGCATTATAATGA[C/T]TGACACTTGTATCTAACTCCAGTCT 171179477 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.26 0.4 0.26 0.36 Homo sapiens C__31270820_10 FMO1 A/C rs12720462 hCV31270820 UTR 5 flavin containing monooxygenase 1 NM_002021 AAGCCAGCACTGGCTCATACTGATT[A/C]ATTTTGATCTCTGCTAATACCAGAG 171217691 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.11 0.07 0.3 0.28 Homo sapiens C__33321349_10 FMO1 C/G Q97 rs56841822 hCV33321349 Mis-sense Mutation flavin containing monooxygenase 1 NM_002021 AATATCTCAAAATGTATGCAAACCA[C/G]TTTGACCTTCTGAAACACATTCAAT 171236840 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.02 0 0 Homo sapiens C__33321358_10 FMO1 A/G Q223 rs16864310 hCV33321358 Mis-sense Mutation flavin containing monooxygenase 1 NM_002021 ACCGGAGGGGGATGGGTGATCAGCC[A/G]AATCTTTGACTCGGGCTACCCATGG 171249965 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0.01 Homo sapiens C___2520627_40 FMO1 C/T T249 rs742350 hCV2520627 Silent Mutation flavin containing monooxygenase 1 NM_002021 ACATGTTGAGAAATTCCCTCCCAAC[C/T]CCAATTGTGACTTGGTTGATGGAGC 171250044 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.12 0.48 0 0.02 Homo sapiens C__25619754_20 FMO1 C/T L327 rs28360420 hCV25619754 Mis-sense Mutation flavin containing monooxygenase 1 NM_002021 GGAAGAGCCTATTGACATCATTGTC[C/T]TTGCCACTGGATACACATTTGCTTT 171251268 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.02 0 0 Homo sapiens C__25619755_20 FMO1 A/G R373 rs28360421 hCV25619755 Mis-sense Mutation flavin containing monooxygenase 1 NM_002021 ACCCTGGCCATTATTGGCCTCATCA[A/G]ACCCTTGGGCTCCATGATACCTACA 171251407 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.02 0 0 Homo sapiens C___8698580_30 FMO1 A/G V396 rs1126692 hCV8698580 Silent Mutation flavin containing monooxygenase 1 NM_002021 GTTTTTATTTTAATCCTACAGGTGT[A/G]AATAAGTTACCACCACCAAGTGTCA 171252287 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.14 0.43 0 0.05 Homo sapiens C__25619762_20 FMO1 A/G P467 rs28360432 hCV25619762 Silent Mutation flavin containing monooxygenase 1 NM_002021 TGGCTCTGACCGTCTTCTTTGGCCC[A/G]TGCTCACCATACCAGTTCCGCTTGA 171254485 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.02 0 0 Homo sapiens C__32334175_10 FMO1 C/T X502 rs60639054 hCV32334175 Nonsense Mutation flavin containing monooxygenase 1 NM_002021 CCGAACATTCAAGGTCATCAAAGCT[C/T]GAGTTGTACAAGAGTCTCCATCTCC 171254588 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.04 0 0 Homo sapiens C_____14533_30 FMO1 C/T rs12954 hCV14533 UTR 3 flavin containing monooxygenase 1 NM_002021 ATAAACTGTATTCAAATAGTAAAGG[C/T]CACCCTCTCGCTTCCCTGGCTGGCC 171254794 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.13 0.07 0.29 0.13 Homo sapiens C_____14532_30 FMO1 C/T rs7877 hCV14532 UTR 3 flavin containing monooxygenase 1 NM_002021 TAATGCTAGAGAATGATAACTAAGA[C/T]TTCTGTGCATTTGAAGGTTGTTGGA 171254890 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.27 0.33 0.29 0.19 Homo sapiens C__25619766_20 FMO4 FMO2 C/T R21 rs60906481 hCV25619766 Mis-sense Mutation flavin containing monooxygenase 4 NM_002022 GAGTGGCCTCTCCTCCATCAAATGC[C/T]GTGTGGATGAGGACCTGGAGCCCAC 171289025 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.01 0 0 0 Homo sapiens C__33321403_10 FMO4 FMO2 C/T T37 rs72549338 hCV33321403 Mis-sense Mutation flavin containing monooxygenase 4 NM_002022 ACCTGCTTTGAGAGAAGTGATGACA[C/T]TGGGGGATTATGGAAGTTTACTGTA 171289074 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C__27490368_30 FMO4 FMO2 C/T F281 rs3737926 hCV27490368 Silent Mutation flavin containing monooxygenase 4 NM_002022 TGTGTCAAAGGAAAAAAGCAAAATT[C/T]ATTGTGAATGATGAGCTGCCAAACT 171303565 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0.05 0.08 Homo sapiens C__27490367_20 FMO4 FMO2 A/T S308 rs3737925 hCV27490367 Mis-sense Mutation flavin containing monooxygenase 4 NM_002022 AACCAGCGTGATTGAATTTACAGAA[A/T]CCTCTGCTGTCTTTGAAGATGGGAC 171303644 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0.02 0 Homo sapiens C___8698591_30 FMO4 FMO2 C/T A323 rs1042767 hCV8698591 Mis-sense Mutation flavin containing monooxygenase 4 NM_002022 GGGACAGTGGAAGAAAACATTGATG[C/T]TGTGATCTTCACTACAGGATATACA 171303690 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0.01 0.19 0 0 Homo sapiens C__32334176_10 FMO4 FMO2 C/G Q339 rs61342270 hCV32334176 Mis-sense Mutation flavin containing monooxygenase 4 NM_002022 TACATTTTCTTTTCCATTTTTTGAA[C/G]AACCTCTTAAAAGCCTCTGTACAAA 171303737 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0.01 0 0 Homo sapiens C__33321419_10 FMO4 FMO2 -/G D435G rs67000791 hCV33321419 Frame Shift InDel flavin containing monooxygenase 4 NM_002022 AAATTTGACTACATTGCCTACATGG[-/G]ATGATATCGCTGCCTGCATAGGCAC 171310605 NCBI Build 37.1 Human "1q24.3a,1q24.3" 1 0 0 0 0 Homo sapiens C___8759171_40 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 G/T |N1383 rs1053387 hCV8759171 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 AACCGTGTGCAGGCGATGGGCAATG[G/T]TCAGCATGGTACAGTCTGCAAATGC 183643407 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0 0 0 0 Homo sapiens C____479128_40 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |L1208 rs3749442 hCV479128 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 TCGTGAAGGATACTTTCTTTAGGAC[A/G]AGAGGGAGGTTTTCTCGGTACCTCA 183660585 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0.17 0.22 0.25 0.5 Homo sapiens C___8683989_40 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 G/T |X1202 rs1053351 hCV8683989 |Nonsense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 TTAGGACGAGAGGGAGGTTTTCTCG[G/T]TACCTCATCTCTGCGTTCTCAAAGG 183660603 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0 0 0 0 Homo sapiens C__32501489_10 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 -/G |V1147V rs72551384 hCV32501489 |Frame Shift InDel "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 GAGCTTCTGTCTCAGATGCCAGTCT[-/G]GACCGTAAACTGGAACAGCCCCGTT 183663701 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0 0 0 0 Homo sapiens C___8759263_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |C594 rs939336 hCV8759263 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 AGGTTTTTCCACTTCCCACACTGCC[A/G]CAGATTCCAACCAGTTTACCCTGGA 183685534 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0.44 0.23 0.18 0.11 Homo sapiens C___8759275_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |S400 rs1053386 hCV8759275 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 CAATGGGAGCCACACCCACAGTGAT[A/G]CTCTGGAAGTACCCAGCTTTTTCCA 183696387 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0 0.2 0 0 Homo sapiens C__12077301_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 A/G |A395 rs1132776 hCV12077301 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 CCACAGTGATGCTCTGGAAGTACCC[A/G]GCTTTTTCCAATATCCGACGCTCCT 183696402 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0.44 0.3 0.22 0.15 Homo sapiens C__25474215_30 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 C/T |Q382 rs7636910 hCV25474215 |Silent Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 CACATACAAAATCTTTAAACTCACT[C/T]TGAACACTCTGAGAAAATGCTTTGA 183699516 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0.39 0.3 0.47 0.38 Homo sapiens C__30724269_10 ABCC5 MRP5|SMRP|ABC33|MOATC|MOAT-C|pABC11|EST277145|DKFZp686C1782 C/G |H285 rs11708427 hCV30724269 |Mis-sense Mutation "ATP-binding cassette, sub-family C (CFTR/MRP), member 5" NM_001023587|NM_005688 CAACGGCTGCTGCCTCAAACATTCT[C/G]TGCCCATCGTTGGAGCAAATGTTGA 183700383 NCBI Build 37.1 Human "3q27.1b,3q27.1" 3 0 0 0 0 Homo sapiens C__25644319_20 AOX1 AO|AOH1 A/G S230 PharmGKB:PA24842 rs61695335 hCV25644319 Silent Mutation aldehyde oxidase 1 NM_001159 AATAGATAATGGCTGAGAAACAGTC[A/G]CAAAGGACCAGGGTGTTTGGCAGTG 201469439 NCBI Build 37.1 Human "2q33.1e,2q33.1" 2 0.01 0 0 0 Homo sapiens C__29454082_10 AOX1 AO|AOH1 C/T V284 PharmGKB:PA24842 rs61280547 hCV29454082 Silent Mutation aldehyde oxidase 1 NM_001159 AATTTAAAGGCGTCTTTCACCCAGT[C/T]ATAATTTCTCCTGATAGAATTGAAG 201470296 NCBI Build 37.1 Human "2q33.1e,2q33.1" 2 0 0 0.01 0 Homo sapiens C__30787292_10 AOX1 AO|AOH1 A/T I455 PharmGKB:PA24842 rs13023698 hCV30787292 Silent Mutation aldehyde oxidase 1 NM_001159 TCTTTTTTGGAGAAGGGGATGGCAT[A/T]ATTAGAGAGTTATGCATCTCATATG 201477433 NCBI Build 37.1 Human "2q33.1e,2q33.1" 2 0 0 0 0 Homo sapiens C__29454081_20 AOX1 AO|AOH1 C/T V473 PharmGKB:PA24842 rs72551311 hCV29454081 Mis-sense Mutation aldehyde oxidase 1 NM_001159 GGCGTTGGTCCAGCCACCATCTGTG[C/T]CAAGAATTCCTGCCAGAAACTCATT 201477486 NCBI Build 37.1 Human "2q33.1e,2q33.1" 2 0 0 0 0 Homo sapiens C__25644291_20 AOX1 AO|AOH1 A/G Q737 PharmGKB:PA24842 rs16833923 hCV25644291 Silent Mutation aldehyde oxidase 1 NM_001159 ACGAAGCATTTAAAGTGGTTGATCA[A/G]ATTCTTGAAGGTAAAAAGTAATGGA 201492162 NCBI Build 37.1 Human "2q33.1e,2q33.1" 2 0 0.07 0 0.01 Homo sapiens C__30787280_10 AOX1 AO|AOH1 A/G K1003 PharmGKB:PA24842 rs13408225 hCV30787280 Silent Mutation aldehyde oxidase 1 NM_001159 AGTTCAATGCAGAGAATTATTGGAA[A/G]AAGAAAGGACTGGCCATGGTCCCCC 201515858 NCBI Build 37.1 Human "2q33.1e,2q33.1" 2 0 0 0 0 Homo sapiens C__25473600_20 AOX1 AO|AOH1 A/G S1135 PharmGKB:PA24842 rs55754655 hCV25473600 Mis-sense Mutation aldehyde oxidase 1 NM_001159 CAGACTGCTTTTGATGAAAGCATTA[A/G]CCTTTCAGCTGTTGGATACTTCAGG 201526330 NCBI Build 37.1 Human "2q33.1e,2q33.1" 2 0.16 0.16 0.01 0.01 Homo sapiens C__27832015_20 CYP20A1 MGC22229|UNQ667/PRO1301|CYP-M C/T rs60606072 hCV27832015 UTR 5 "cytochrome P450, family 20, subfamily A, polypeptide 1" NM_177538 CTGGAGCGGCCGATCCGAGACGTGG[C/T]TCCCTGGGCGGCAGAACCATGTTGG 204103767 NCBI Build 37.1 Human "2q33.2,2q33.2a" 2 0 0.1 0 0 Homo sapiens C__30873817_10 CYP20A1 MGC22229|UNQ667/PRO1301|CYP-M G/T L73 rs13397243 hCV30873817 Mis-sense Mutation "cytochrome P450, family 20, subfamily A, polypeptide 1" NM_177538 ATGGGCCTGTGGTCTCCTTCTGGTT[G/T]GGCAGGCGCCTCGTGGTTAGTTTGG 204111574 NCBI Build 37.1 Human "2q33.2a,2q33.2" 2 0 0 0 0 Homo sapiens C__11928752_30 CYP20A1 MGC22229|UNQ667/PRO1301|CYP-M C/T L97 rs2043449 hCV11928752 Mis-sense Mutation "cytochrome P450, family 20, subfamily A, polypeptide 1" NM_177538 GAAATATTTAATTTGTCTGTTTCAG[C/T]GGACCCTTTTGAAACCATGCTGAAG 204116690 NCBI Build 37.1 Human "2q33.2b,2q33.2" 2 0.03 0.29 0.1 0.06 Homo sapiens C__32736212_10 CYP20A1 MGC22229|UNQ667/PRO1301|CYP-M A/G E124 rs17851797 hCV32736212 Mis-sense Mutation "cytochrome P450, family 20, subfamily A, polypeptide 1" NM_177538 CAGTGTGAGTGAAAACCACATGAGG[A/G]AAAAATTGTATGAAAATGGTGTGAC 204116770 NCBI Build 37.1 Human "2q33.2b,2q33.2" 2 0 0 0 0 Homo sapiens C___8761912_30 CYP20A1 MGC22229|UNQ667/PRO1301|CYP-M C/T F346 rs1048013 hCV8761912 Mis-sense Mutation "cytochrome P450, family 20, subfamily A, polypeptide 1" NM_177538 CAAACTGACTCCAGTTTCTGCCCAG[C/T]TTCAAGATATTGAAGGAAAAATTGA 204154552 NCBI Build 37.1 Human "2q33.2b,2q33.2" 2 0.37 0.19 0.24 0.37 Homo sapiens C___8841156_30 CYP27A1 CTX|CP27|CYP27 A/C G122 rs1051087 hCV8841156 Silent Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 TGGAGCAAGTGATGCGGCAAGAGGG[A/C]AAGTACCCAGTACGGAACGACATGG 219674410 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C___1026100_20 CYP27A1 CTX|CP27|CYP27 C/T W137 rs72551312 hCV1026100 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CGACATGGAGCTATGGAAGGAGCAC[C/T]GGGACCAGCACGACCTGACCTATGG 219674453 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__27861798_10 CYP27A1 CTX|CP27|CYP27 A/G E145 rs72551313 hCV27861798 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CGGGACCAGCACGACCTGACCTATG[A/G]GCCGTTCACCACGTGAGCTGGGGCC 219674478 NCBI Build 37.1 Human "2q35,2q35e" 2 0 0 0 0 Homo sapiens C___1026086_70 CYP27A1 CTX|CP27|CYP27 A/G P146 rs692003 hCV1026086 Silent Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 ACCAGCACGACCTGACCTATGGGCC[A/G]TTCACCACGTGAGCTGGGGCCTGAA 219674482 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0.2 0 0 Homo sapiens C__32733008_10 CYP27A1 CTX|CP27|CYP27 -/G hCV32733008 "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 TGTGCTGTTCCTCTGCGTCCCTGCA[-/G]GGGAAGGACACCACTGGTACCAGCT 219676944 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C___1026099_20 CYP27A1 CTX|CP27|CYP27 C/T X159 rs72551314 hCV1026099 Nonsense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 AGGACACCACTGGTACCAGCTGCGC[C/T]AGGCTCTGAACCAGCGGTTGCTGAA 219676973 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__25634896_30 CYP27A1 CTX|CP27|CYP27 C/T W164 rs61733615 hCV25634896 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CCAGCTGCGCCAGGCTCTGAACCAG[C/T]GGTTGCTGAAGCCAGCGGAAGCAGC 219676988 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__25634897_20 CYP27A1 CTX|CP27|CYP27 C/T V169 rs59443548 hCV25634897 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CTGAACCAGCGGTTGCTGAAGCCAG[C/T]GGAAGCAGCGCTCTATACGGATGCT 219677004 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0.01 0 0 Homo sapiens C__16172252_20 CYP27A1 CTX|CP27|CYP27 C/T M175 rs2229381 hCV16172252 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 AAGCCAGCGGAAGCAGCGCTCTATA[C/T]GGATGCTTTCAATGAGGTGATTGAT 219677022 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0.04 0 0 Homo sapiens C__27536961_20 CYP27A1 CTX|CP27|CYP27 C/T X231 rs72551315 hCV27536961 Nonsense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CGAGAAACGCATTGGCTGCCTGCAG[C/T]GATCCATCCCCGAGGACACCGTGAC 219677319 NCBI Build 37.1 Human "2q35,2q35e" 2 0 0 0 0 Homo sapiens C__27530987_20 CYP27A1 CTX|CP27|CYP27 C/T X249 rs72551316 hCV27530987 Nonsense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CGTCAGATCCATCGGGTTAATGTTC[C/T]AGAACTCACTCTATGCCACCTTCCT 219677373 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__27536087_20 CYP27A1 CTX|CP27|CYP27 A/G R259 rs72551317 hCV27536087 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 TCACTCTATGCCACCTTCCTCCCCA[A/G]GTGGACTCGCCCCGTGCTGCCTTTC 219677404 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__32733009_10 CYP27A1 CTX|CP27|CYP27 C/T X270 rs72551318 hCV32733009 Nonsense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 TCGCCCCGTGCTGCCTTTCTGGAAG[C/T]GATACCTGGATGGTTGGAATGCCAT 219677436 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__27861799_20 CYP27A1 CTX|CP27|CYP27 A/T X284 rs72551319 hCV27861799 Nonsense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CTTCTCTGTTGCTTTCACAGGGAAG[A/T]AGCTGATTGATGAGAAGCTCGAAGA 219677652 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__25634901_20 CYP27A1 CTX|CP27|CYP27 A/G E294 rs59428328 hCV25634901 Silent Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 TTGATGAGAAGCTCGAAGATATGGA[A/G]GCCCAACTGCAGGCAGCAGGGCCAG 219677684 NCBI Build 37.1 Human "2q35e,2q35" 2 0.01 0 0 0 Homo sapiens C__25634902_20 CYP27A1 CTX|CP27|CYP27 A/G Q296 rs61733619 hCV25634902 Silent Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 AGAAGCTCGAAGATATGGAGGCCCA[A/G]CTGCAGGCAGCAGGGCCAGATGGCA 219677690 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__27528237_20 CYP27A1 CTX|CP27|CYP27 A/G G354 rs72551320 hCV27528237 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 TGGGCCCTGTACCACCTCTCAAAGG[A/G]CCCTGAGATCCAGGAGGCCTTGCAC 219678787 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__32733012_10 CYP27A1 CTX|CP27|CYP27 -/T hCV32733012 "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CCCTGAGATCCAGGAGGCCTTGCAC[-/T]GAGGAAGTGGTGGGTGTGGTGCCAG 219678813 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__25634903_20 CYP27A1 CTX|CP27|CYP27 C/T L384 rs41272687 hCV25634903 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CAGCACAAGGACTTTGCCCACATGC[C/T]GTTGCTCAAAGCTGTGCTTAAGGAG 219678877 NCBI Build 37.1 Human "2q35e,2q35" 2 0.06 0 0 0 Homo sapiens C__27540641_20 CYP27A1 CTX|CP27|CYP27 C/T C479 rs72551322 hCV27540641 Mis-sense Mutation "cytochrome P450, family 27, subfamily A, polypeptide 1" NM_000784 CTATGGGGTCCGGGCCTGCCTGGGC[C/T]GCAGGATTGCAGAGCTGGAGATGCA 219679439 NCBI Build 37.1 Human "2q35e,2q35" 2 0 0 0 0 Homo sapiens C__25634955_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/G rs61733626 hCV25634955 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 CTCATTAGATGTATCCAGCGCTGAC[A/G]TTGCCTATAGAGAGGGTCCAGGTAA 220075193 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__30871732_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 C/T rs13402964 hCV30871732 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 CTGTGAAATGTCCTGCCCATCTATT[C/T]GGATGCAGCCAGAGCTGATGTCGTA 220077134 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0.01 0 0 Homo sapiens C__32733337_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 C/T rs17849341 hCV32733337 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 AGCCGGCGAGGAGCCCGAGCCCAAT[C/T]ACCAGGTTCTGGGTCTGATTTAGTA 220078614 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__25634960_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/G rs61733629 hCV25634960 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 CGTCTCGAAGTTTAGCAGAGAGTCC[A/G]CTGCTCGTGCCCGGGTAGCGTTCTC 220079136 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__25634959_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/G rs61733628 hCV25634959 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GACGAAACTTGGTTCTCCACTCAGT[A/G]ACCACAATGGTCAGGGCTGGAGAGT 220079204 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__26175098_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/G hCV26175098 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GATGTGCCCCGATCCGCGATCCGCA[A/G]CACCTCCCCTGTGCGGCGCCCCAGG 220080765 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__26175099_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/G rs72552280 hCV26175099 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 AGCACCTCCCCTGTGCGGCGCCCCA[A/G]GTGCCAGCGCAGTGAGAGCTCGTGC 220080789 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__25634941_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 C/T rs60322991 hCV25634941 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GGAGAAGATGAGCAGCTCCACCCGC[C/T]GAGACGTGAACTGCTGCACCCGGAT 220080845 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0.17 0 0 Homo sapiens C__30871733_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/C rs13018099 hCV30871733 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 CCCCCCTGGAGGAACTTGAGGAAGA[A/C]GTAACTGGTAACAGTCCAGGCCAGA 220081128 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0.01 0 Homo sapiens C__30871734_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 C/G rs13018426 hCV30871734 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GAAGACGTAACTGGTAACAGTCCAG[C/G]CCAGAGAGTTCCAAGGTGCCTTCTC 220081148 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__30871735_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 G/T rs13018427 hCV30871735 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 AACTGGTAACAGTCCAGGCCAGAGA[G/T]TTCCAAGGTGCCTTCTCAGTCAGCA 220081156 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__30871736_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 C/G rs13018440 hCV30871736 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GAGTTCCAAGGTGCCTTCTCAGTCA[C/G]CAAGTTCACTGTGGAGGAAACGAGT 220081179 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__25634942_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/G rs57467915 hCV25634942 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 ATAGGCACCAACACATTGAGTGCCC[A/G]TTCCAAACCCATGAGCCCCAGGCAG 220081416 NCBI Build 37.1 Human "2q35f,2q35" 2 0.01 0 0 0 Homo sapiens C__29454085_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 C/T hCV29454085 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GACCACATACCGCAGCACCCACAGG[C/T]TAAACTGAACCTAGAATGAAATATA 220082519 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C___8840876_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 C/T rs1109866 hCV8840876 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GAGCCAGCACCAAGGCCAGAGTCCC[C/T]AGAGCCATCCGCGTCGAGGGCACGA 220083279 NCBI Build 37.1 Human "2q35f,2q35" 2 0.11 0.5 0.22 0.1 Homo sapiens C__32733340_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 -/G hCV32733340 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 CGCCGGCCGAGGCTGCGGGCACTGC[-/G]GGACCGGAGGCCGGGACTGGTCACT 220083434 NCBI Build 37.1 Human "2q35,2q35f" 2 0 0 0 0 Homo sapiens C___8840875_20 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 G/T rs1109867 hCV8840875 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 CACTGCGGGACCGGAGGCCGGGACT[G/T]GTCACTCGGAGAGGGGCGCGGACAT 220083453 NCBI Build 37.1 Human "2q35f,2q35" 2 0.11 0.49 0.23 0.1 Homo sapiens C__29454087_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/G hCV29454087 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 ACGCGCCGCCGCCACGCACTCACGC[A/G]GGGCACGTACGCCGTCTCAGCACGG 220083602 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__29454088_10 ABCB6 ABC|PRP|umat|ABC14|MTABC3|FLJ22414 A/C hCV29454088 "ATP-binding cassette, sub-family B (MDR/TAP), member 6" NM_005689 GCCGCCGCCACGCACTCACGCAGGG[A/C]ACGTACGCCGTCTCAGCACGGCCCC 220083606 NCBI Build 37.1 Human "2q35f,2q35" 2 0 0 0 0 Homo sapiens C__27471394_30 EPHX1 MEH|EPHX|EPOX G/T | PharmGKB:PA27829 rs3738039 hCV27471394 UTR 5|Intron "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 TGGGGAGTGGGGGCCAGTGCCTGCA[G/T]CCTGCCCTGCCTCTCTCACAGGCCC 226013037 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__11638790_10 EPHX1 MEH|EPHX|EPOX A/G | PharmGKB:PA27829 rs72549340 hCV11638790 UTR 5|Intron "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CAAGGAGTAATCAGAGGGTGAGAAC[A/G]TGGAGCCTGGTGGACAGGTGAAAGC 226013129 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__27474189_30 EPHX1 MEH|EPHX|EPOX C/G T43|T43 PharmGKB:PA27829 rs3738046 hCV27474189 Mis-sense Mutation|Mis-sense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 GGGCCAGGCACGAGGTCCGCAGCCA[C/G]GGAGGACGACAGCATCCGCCCTTTC 226016558 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0.01 Homo sapiens C__11638788_30 EPHX1 MEH|EPHX|EPOX C/T C49|C49 PharmGKB:PA27829 rs2234697 hCV11638788 Mis-sense Mutation|Mis-sense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CGCAGCCAGGGAGGACGACAGCATC[C/T]GCCCTTTCAAGGTGGAAACGTCAGA 226016575 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0.03 0 0 Homo sapiens C__11638787_30 EPHX1 MEH|EPHX|EPOX C/T D68|D68 PharmGKB:PA27829 rs2234698 hCV11638787 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 TCCAGGACTTACACCAGAGGATCGA[C/T]AAGTTCCGTTTCACCCCACCTTTGG 226019500 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.01 0.03 0 0 Homo sapiens C__27540172_30 EPHX1 MEH|EPHX|EPOX A/G X97|X97 PharmGKB:PA27829 rs4986931 hCV27540172 Nonsense Mutation|Nonsense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 TACCTGAAGAAAGTCATCTCCTACT[A/G]GCGGAATGAATTTGACTGGAAGAAG 226019586 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__11638786_30 EPHX1 MEH|EPHX|EPOX C/T F101|F101 PharmGKB:PA27829 rs2234699 hCV11638786 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 TCATCTCCTACTGGCGGAATGAATT[C/T]GACTGGAAGAAGCAGGTGGAGATTC 226019599 NCBI Build 37.1 Human "1q42.12,1q42.12c" 1 0 0 0 0 Homo sapiens C_____14938_30 EPHX1 MEH|EPHX|EPOX C/T H113|H113 PharmGKB:PA27829 rs1051740 hCV14938 Mis-sense Mutation|Mis-sense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 GAAGCAGGTGGAGATTCTCAACAGA[C/T]ACCCTCACTTCAAGACTAAGATTGA 226019633 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.27 0.23 0.44 0.47 Homo sapiens C__15968483_30 EPHX1 MEH|EPHX|EPOX A/G K119|K119 PharmGKB:PA27829 rs2292566 hCV15968483 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 ACAGATACCCTCACTTCAAGACTAA[A/G]ATTGAAGGTATGTTTGCAAAACGCC 226019653 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.08 0.18 0.31 0.3 Homo sapiens C__11638783_30 EPHX1 MEH|EPHX|EPOX A/G R139|R139 PharmGKB:PA27829 rs2234922 hCV11638783 Mis-sense Mutation|Mis-sense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 AAGCCCCCCCAGCTGCCCGCAGGCC[A/G]TACCCCGAAGCCCTTGCTGATGGTG 226026406 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.2 0.33 0.1 0.16 Homo sapiens C___2726011_20 EPHX1 MEH|EPHX|EPOX C/T H247|H247 PharmGKB:PA27829 rs34143170 hCV2726011 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CCTTCAGCCACGTGAAAGGCCTGCA[C/T]TTGAACATGGCTTTGGTTTTAAGCA 226027548 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.04 0.07 0 0 Homo sapiens C__25614902_20 EPHX1 MEH|EPHX|EPOX A/G L254|L254 PharmGKB:PA27829 rs35561387 hCV25614902 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 TGCACTTGAACATGGCTTTGGTTTT[A/G]AGCAACTTCTCTACCCTGACCCTCC 226027569 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0.06 0 0 Homo sapiens C__15968481_30 EPHX1 MEH|EPHX|EPOX C/T P284|P284 PharmGKB:PA27829 rs2292568 hCV15968481 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 AGAGGGATGTGGAGCTGCTGTACCC[C/T]GTCAAGGAGAAGGTATTCTACAGCC 226027659 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.09 0.05 0.14 0.13 Homo sapiens C___7540417_20 EPHX1 MEH|EPHX|EPOX C/T F290|F290 PharmGKB:PA27829 rs1803538 hCV7540417 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 TGTACCCCGTCAAGGAGAAGGTATT[C/T]TACAGCCTGATGAGGGAGAGCGGCT 226027677 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__11638763_30 EPHX1 MEH|EPHX|EPOX C/T N357|N357 PharmGKB:PA27829 rs1051741 hCV11638763 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 TCTCCCTGGACGACCTGCTGACCAA[C/T]GTCATGCTCTACTGGACAACAGGCA 226032229 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.06 0.16 0.1 0.14 Homo sapiens C___1115304_20 EPHX1 MEH|EPHX|EPOX A/C S374|S374 PharmGKB:PA27829 rs72549341 hCV1115304 Mis-sense Mutation|Mis-sense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 ACCATCATCTCCTCCCAGCGCTTCT[A/C]CAAGGAGAACCTGGGACAGGGCTGG 226032279 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__26884762_30 EPHX1 MEH|EPHX|EPOX A/T Q387|Q387 PharmGKB:PA27829 rs2137841 hCV26884762 Mis-sense Mutation|Mis-sense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 GACAGGGCTGGATGACCCAGAAGCA[A/T]GAGCGGTGAGCCTGGCTGAGCCGAG 226032319 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__11638782_30 EPHX1 MEH|EPHX|EPOX C/T L406|L406 PharmGKB:PA27829 rs2234700 hCV11638782 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CTTCTCTGCCTTCCCTTTTGAGCTA[C/T]TGCACACGCCTGAAAAGTGGGTGAG 226032896 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0.06 0 0 Homo sapiens C__30634036_10 EPHX1 MEH|EPHX|EPOX A/G K416|K416 PharmGKB:PA27829 rs4149229 hCV30634036 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CGCCTGAAAAGTGGGTGAGGTTCAA[A/G]TACCCAAAGCTCATCTCCTATTCCT 226032928 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0.07 0.1 0.08 Homo sapiens C__30634037_10 EPHX1 MEH|EPHX|EPOX C/G S450|S450 PharmGKB:PA27829 rs4149230 hCV30634037 Silent Mutation|Silent Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CCCAGGACATCCGCAAGTTCCTGTC[C/G]GTGCTGGAGCGGCAATGACCCACCC 226033030 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0.09 0.02 0.14 0.13 Homo sapiens C__11638781_10 EPHX1 MEH|EPHX|EPOX A/G Q454|Q454 PharmGKB:PA27829 rs2234701 hCV11638781 Mis-sense Mutation|Mis-sense Mutation "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CGCAAGTTCCTGTCGGTGCTGGAGC[A/G]GCAATGACCCACCCCTCTCCCCCCG 226033041 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__30634038_10 EPHX1 MEH|EPHX|EPOX A/C | PharmGKB:PA27829 rs4653695 hCV30634038 UTR 3|UTR 3 "epoxide hydrolase 1, microsomal (xenobiotic)" NM_000120|NM_001136018 CTCCCCCCGCCTGCCACCTCCCCCC[A/C]CAAGTGCCCTCCAGGCTTTTCTTGG 226033083 NCBI Build 37.1 Human "1q42.12c,1q42.12" 1 0 0 0 0 Homo sapiens C__32340905_10 ABCB10 M-ABC2|MTABC2|EST20237 A/G hCV32340905 "ATP-binding cassette, sub-family B (MDR/TAP), member 10" NM_012089 TTCCATATTCAGTAATTTTTCCTTG[A/G]TCAAGAACAGCAACCATATTAGCAT 229654028 NCBI Build 37.1 Human "1q42.13e,1q42.13" 1 0 0 0 0 Homo sapiens C__25634377_20 ABCB10 M-ABC2|MTABC2|EST20237 C/T N545 rs35698797 hCV25634377 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 10" NM_012089 GTGAACTGCTTACCAGAAGCAGGGT[C/T]GTACAACCTCAGCAGGAGTGAAAGC 229665958 NCBI Build 37.1 Human "1q42.13e,1q42.13" 1 0 0 0 0 Homo sapiens C__25634369_20 ABCB10 M-ABC2|MTABC2|EST20237 G/T K478 rs57503359 hCV25634369 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 10" NM_012089 CAAAGAAACAATTTTCAGACCCACC[G/T]TTAAAAGGCAGCTTGGGCTCTCTCT 229667384 NCBI Build 37.1 Human "1q42.13e,1q42.13" 1 0 0.03 0 0 Homo sapiens C__25634362_20 ABCB10 M-ABC2|MTABC2|EST20237 A/G S301 rs3738187 hCV25634362 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 10" NM_012089 CACATACCATCATACTGATGCCTAC[A/G]GAAGCCTGGGCCCCGGCCCTGAGCC 229683264 NCBI Build 37.1 Human "1q42.13e,1q42.13" 1 0.23 0.44 0.06 0.2 Homo sapiens C__33490361_10 ABCB10 M-ABC2|MTABC2|EST20237 C/G G242 rs17584642 hCV33490361 Mis-sense Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 10" NM_012089 GAAGTTCTCAGCCTATTCACAATGC[C/G]CTGACCTGCAAAAGCAAACACGAAC 229683443 NCBI Build 37.1 Human "1q42.13e,1q42.13" 1 0 0 0 0 Homo sapiens C__25761435_20 ABCB10 M-ABC2|MTABC2|EST20237 C/T T179 rs12080811 hCV25761435 Silent Mutation "ATP-binding cassette, sub-family B (MDR/TAP), member 10" NM_012089 CAGACATGGAGATAACACTGGACAT[C/T]GTGAGAAATCCAACCGCAGCTAGAA 229685162 NCBI Build 37.1 Human "1q42.13e,1q42.13" 1 0 0.04 0 0 Homo sapiens C__32340910_10 ABCB10 M-ABC2|MTABC2|EST20237 C/T hCV32340910 "ATP-binding cassette, sub-family B (MDR/TAP), member 10" NM_012089 CTCCTCCAGCGGCGCGCGGCTCCAA[C/T]GCCCCAGAGCAGCGCGGGCCCCGCG 229694216 NCBI Build 37.1 Human "1q42.13e,1q42.13" 1 0 0 0 0 Homo sapiens C__11473115_10 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 C/G C15 PharmGKB:PA37183 rs1126783 hCV11473115 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 ACCAGCCCCATTCCCCTATGTGTTT[C/G]TCTGCTGCTGACCTGTGGCTTTGCT 234526397 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__72649739_10 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 C/T PharmGKB:PA37183 hCV72649739 "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 GGGAGTCACTGGTTCACCATGCAGT[C/T]GGTGGTGGAGAAACTTATCCTCAGG 234526481 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__72649740_30 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 C/A N53 PharmGKB:PA37183 rs45504099 hCV72649740 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 GGTGGAGAAACTTATCCTCAGGGGG[C/A]ATGAGGTGGTTGTAGTCATGCCAGA 234526510 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0.01 0 0 Homo sapiens C__11473123_10 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 A/G |D118 PharmGKB:PA37183 rs1126798 hCV11473123 |Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_007120|NM_019076 TCTGAGTTCATCCAATGGTTTTTTT[A/G]ACTTATTTTTTTCGCATTGCAGGAG 234526705 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__11742072_10 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 "UGT1A8*2,c.518C>G|UGT1A8*2,c.518G>C|UGT1A8*2,g.518G>C" C/G PharmGKB:PA37183 rs1042597 hCV11742072 "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 TCTGTGGTCTTCGCCAGGGGAATAG[C/G]TTGCCACTATCTTGAAGAAGGTGCA 234526871 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.24 0.08 0.47 0.41 Homo sapiens C__27155323_10 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 C/T PharmGKB:PA37183 hCV27155323 "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 TGCCATGACTTTCAAGGAGAGAGTA[C/T]GGAACCACATCATGCACTTGGAGGA 234526975 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__27155324_20 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 A/G |V212 PharmGKB:PA37183 rs1126803 hCV27155324 |Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_007120|NM_019076 CAAGGAGAGAGTACGGAACCACATC[A/G]TGCACTTGGAGGAACATTTATTTTG 234526987 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__27155325_20 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 A/C |D216 PharmGKB:PA37183 rs1126804 hCV27155325 |Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_007120|NM_019076 GGAACCACATCATGCACTTGGAGGA[A/C]CATTTATTTTGCCAGTATTTTTCCA 234527001 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__72649741_20 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 G/A T231 PharmGKB:PA37183 rs72551325 hCV72649741 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 TTTTTCCAAAAATGCCCTAGAAATA[G/A]CCTCTGAAATTCTCCAAACACCTGT 234527044 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.01 0 0 0 Homo sapiens C__27155326_10 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 A/C |T237 PharmGKB:PA37183 rs1126805 hCV27155326 |Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_007120|NM_019076 AAATAGCCTCTGAAATTCTCCAAAC[A/C]CCTGTCACAGCATATGATCTCTACA 234527064 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0.05 0.06 Homo sapiens C__27155327_10 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 A/G T240 PharmGKB:PA37183 rs1126806 hCV27155327 Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 CTGAAATTCTCCAAACACCTGTCAC[A/G]GCATATGATCTCTACAGCCACACAT 234527073 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__34418787_40 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 "UGT1A8*1b,c.765A>G" A/G T255 PharmGKB:PA37183 rs1042605 hCV34418787 Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 ACACATCAATTTGGTTGTTGCGAAC[A/G]GACTTTGTTTTGGACTATCCCAAAC 234527118 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.16 0.13 0.03 0.1 Homo sapiens C__34418788_20 UGT1A8 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8 "UGT1A8*3,c.830G>A|UGT1A8*3,g.830G>A" A/G Y277 PharmGKB:PA37183 rs17863762 hCV34418788 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8" NM_019076 ATGATCTTCATTGGTGGTATCAACT[A/G]CCATCAGGGAAAGCCATTGCCTATG 234527183 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__34816140_20 UGT1A10 UDPGT|UGT1J "UGT1A10*2,g.177G>A|UGT1A10*5,g.177G>A" A/G I59 rs56935833 hCV34816140 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A10" NM_019075 GGGGGCATGAGGTGGTTGTAGTCAT[A/G]CCAGAGGTGAGTTGGCAACTGGAAA 234545345 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0.01 0 Homo sapiens C__30413920_30 UGT1A10 UDPGT|UGT1J "UGT1A10*2a,g.415G>A" A/G K139 rs10187694 hCV30413920 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A10" NM_019075 CCGAAAATTAGTAGAATACTTAAAG[A/G]AGAGTTCTTTTGATGCAGTGTTTCT 234545583 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0.08 0 0 Homo sapiens C__25759233_10 UGT1A10 UDPGT|UGT1J "UGT1A10*1c,g.597T>C|UGT1A10*1d,g.597T>C|UGT1A10*4c,g.597T>C" C/T D199 rs45523834 hCV25759233 Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A10" NM_019075 CCAATGATCTCTTAGGGTTCTCAGA[C/T]GCCATGACTTTCAAGGAGAGAGTAT 234545765 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0.01 0 0 Homo sapiens C__34816141_20 UGT1A10 UDPGT|UGT1J "UGT1A10*3,g.605C>T|UGT1A10*6,g.605C>T" C/T I202 rs58704432 hCV34816141 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A10" NM_019075 CTCTTAGGGTTCTCAGATGCCATGA[C/T]TTTCAAGGAGAGAGTATGGAACCAC 234545773 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0.01 Homo sapiens C__34418857_10 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9 "UGT1A9*1l,c.-2152C>T|UGT1A9*1l,g.-2152C>T|UGT1A9*1n,c.-2152C>T|UGT1A9*1n,g.-2152C>T" C/T PharmGKB:PA419 rs17868320 hCV34418857 "UDP glucuronosyltransferase 1 family, polypeptide A9" NM_021027 CAATGCAACCTCCGCTTCCCGGGTT[C/T]AAGTGATTCTCCTGCCTCAGCCTCC 234578428 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.01 0 0 0 Homo sapiens C__27843087_10 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9 "UGT1A9*1l,c.-275T>A|UGT1A9*1l,g.-275T>A|UGT1A9*1n,c.-275T>A|UGT1A9*1n,g.-275T>A" A/T PharmGKB:PA419 rs6714486 hCV27843087 "UDP glucuronosyltransferase 1 family, polypeptide A9" NM_021027 AAAAGCATTGGTTAATAATTCTGCT[A/T]CTAAACTTAACATTGCAGCACAGGG 234580305 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.01 0.11 0 0 Homo sapiens C__64627083_10 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9 "UGT1A9*3a,c.98T>C|UGT1A9*3a,g.98T>C|UGT1A9*3b,c.98T>C|UGT1A9*3b,g.98T>C" C/T T33 PharmGKB:PA419 rs72551330 hCV64627083 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A9" NM_021027 GCAGGGAAGCTACTGGTAGTGCCCA[C/T]GGATGGGAGCCACTGGTTCACCATG 234580678 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__34816142_20 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9 "UGT1A9*4,c.726T>G|UGT1A9*4,g.726T>G" G/T X242 PharmGKB:PA419 rs66915469 hCV34816142 Nonsense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A9" NM_021027 TTCTCCAAACACCTGTTACGGAGTA[G/T]GATCTCTACAGCCACACATCAATTT 234581306 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__34418864_30 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9 A/G L252 PharmGKB:PA419 rs17863776 hCV34418864 Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A9" NM_021027 TCTACAGCCACACATCAATTTGGTT[A/G]TTGCGAACGGACTTTGTTTTGGACT 234581336 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__34816143_20 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9 "UGT1A9*5,c.766G>A|UGT1A9*5,g.766G>A" A/G N256 PharmGKB:PA419 rs58597806 hCV34816143 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A9" NM_021027 CACATCAATTTGGTTGTTGCGAACG[A/G]ACTTTGTTTTGGACTATCCCAAACC 234581346 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0.01 0 Homo sapiens C__28026196_10 UGT1A9 LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9 A/T E265 PharmGKB:PA419 rs4663870 hCV28026196 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A9" NM_021027 TTTGTTTTGGACTATCCCAAACCCG[A/T]GATGCCCAACATGATCTTCATTGGT 234581374 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C____287264_40 UGT1A7 UDPGT|UGT1G|UDPGT 1-7 "UGT1A7*3,g.33C>A|UGT1A7*4,g.33C>A" A/C |P11 PharmGKB:PA37182 rs7577677 hCV287264 |Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A7" NM_007120|NM_019077 GTGCAGGGTGGACTGGCCTCCTTCC[A/C]CTATATGTGTGTCTACTGCTGACCT 234590616 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.45 0.26 0.19 0.1 Homo sapiens C__29367985_10 UGT1A7 UDPGT|UGT1G|UDPGT 1-7 C/G |V56 PharmGKB:PA37182 rs7577789 hCV29367985 |Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A7" NM_007120|NM_019077 TCATCCTCAGGGGGCATGAGGTGGT[C/G]GTAGTCATGCCAGAGGTGAGTTGGC 234590751 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__25969303_10 UGT1A7 UDPGT|UGT1G|UDPGT 1-7 A/G E89 PharmGKB:PA37182 rs72551331 hCV25969303 Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A7" NM_019077 ACACTCTGGAGGATCAGGACCGGGA[A/G]TTCATGGTTTTTGCCGATGCTCGCT 234590850 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__25959349_20 UGT1A7 UDPGT|UGT1G|UDPGT 1-7 "UGT1A7*5,g.343G>A|UGT1A7*9,g.343G>A" A/G S115 PharmGKB:PA37182 rs61261057 hCV25959349 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A7" NM_019077 TTCTCTATTAACAAGTTCATCCAAT[A/G]GTATTTTTGACTTATTTTTTTCAAA 234590926 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0.01 0 0 Homo sapiens C__72649770_20 UGT1A7 UDPGT|UGT1G|UDPGT 1-7 "UGT1A7*6,g.417G>C|UGT1A7*7,g.417G>C|UGT1A7*8,g.417G>C" C/G PharmGKB:PA37182 hCV72649770 "UDP glucuronosyltransferase 1 family, polypeptide A7" NM_019077 GAAAATTAGTAGAATACTTAAAGGA[C/G]AGTTGTTTTGATGCAGTGTTTCTCG 234591000 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__25974204_20 UGT1A7 UDPGT|UGT1G|UDPGT 1-7 C/G S141 PharmGKB:PA37182 rs72551332 hCV25974204 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A7" NM_019077 TTAGTAGAATACTTAAAGGAGAGTT[C/G]TTTTGATGCAGTGTTTCTCGATCCT 234591005 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C____287260_10 UGT1A7 UDPGT|UGT1G|UDPGT 1-7 "UGT1A7*10,g.622T>C|UGT1A7*3,g.622T>C|UGT1A7*4,g.622T>C|UGT1A7*8,g.622T>C" C/T R208 PharmGKB:PA37182 rs11692021 hCV287260 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A7" NM_019077 CGCCATGACTTTCAAGGAGAGAGTA[C/T]GGAACCACATCATGCACTTGGAGGA 234591205 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0.44 0.26 0.2 0.11 Homo sapiens C___1432204_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 "UGT1A6*2a,c.19T>G|UGT1A6*2a,g.19T>G|UGT1A6*2b,c.19T>G|UGT1A6*2b,g.19T>G|UGT1A6*2c,c.19T>G|UGT1A6*2c,g.19T>G|UGT1A6*2d,c.19T>G|UGT1A6*2d,g.19T>G|UGT1A6*2e,c.19T>G|UGT1A6*2e,g.19T>G|UGT1A6*3a,c.19T>G|UGT1A6*3a,g.19T>G|UGT1A6*3b,c.19T>G|UGT1A6*3b,g.19T>G|UGT1A6*4,c.19T>G|UGT1A6*4a,c.19T>G|UGT1A6*4a,g.19T>G|UGT1A6*4b,c.19T>G|UGT1A6*4b,g.19T>G|UGT1A6*4c,c.19T>G|UGT1A6*4c,g.19T>G|UGT1A6*5,c.19T>G|UGT1A6*6,c.19T>G|UGT1A6*6,g.19T>G|UGT1A6*7,c.19T>G|UGT1A6*7,g.19T>G" G/T A7|| PharmGKB:PA37181 rs6759892 hCV1432204 Mis-sense Mutation||Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_007120|NM_205862 TTCCAGGATGGCCTGCCTCCTTCGC[G/T]CATTTCAGAGAATTTCTGCAGGGGT 234601669 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.46 0.39 0.22 0.14 Homo sapiens C__34418890_10 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 -/G R10E| PharmGKB:PA37181 rs72551333 hCV34418890 Frame Shift InDel|Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_205862 GCCTGCCTCCTTCGCTCATTTCAGA[-/G]GAATTTCTGCAGGGGTTTTCTTCTT 234601679 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C___8739306_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 A/T A19|| PharmGKB:PA37181 rs1042707 hCV8739306 Silent Mutation||Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_007120|NM_205862 TTTCTGCAGGGGTTTTCTTCTTAGC[A/T]CTTTGGGGCATGGTTGTAGGTGACA 234601707 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0 0 0 0 Homo sapiens C___8739299_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 A/C Y70|| PharmGKB:PA37181 rs1042708 hCV8739299 Mis-sense Mutation||Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_007120|NM_205862 GAAGTTAATTTGCTTTTGAAAGAAT[A/C]CAAATACTACACAAGAAAAATCTAT 234601859 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C___1173641_10 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 "UGT1A6*2a,c.315A>G|UGT1A6*2a,g.315A>G|UGT1A6*2b,c.315A>G|UGT1A6*2b,g.315A>G|UGT1A6*2c,c.315A>G|UGT1A6*2c,g.315A>G|UGT1A6*2d,c.315A>G|UGT1A6*2d,g.315A>G|UGT1A6*2e,c.315A>G|UGT1A6*2e,g.315A>G|UGT1A6*3b,c.315A>G|UGT1A6*3b,g.315A>G|UGT1A6*4a,c.315A>G|UGT1A6*4a,g.315A>G|UGT1A6*4b,c.315A>G|UGT1A6*4b,g.315A>G|UGT1A6*4c,c.315A>G|UGT1A6*4c,g.315A>G|UGT1A6*6,c.315A>G|UGT1A6*6,g.315A>G|UGT1A6*7,c.315A>G|UGT1A6*7,g.315A>G" A/G L105|| PharmGKB:PA37181 rs1105880 hCV1173641 Silent Mutation||Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_007120|NM_205862 ATCACTTTGCTGAGCGATCATTCCT[A/G]ACTGCTCCTCAGACAGAGTACAGGA 234601965 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.44 0.38 0.22 0.13 Homo sapiens C__15868110_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 "UGT1A6*2,c.541A>G|UGT1A6*2a,c.541A>G|UGT1A6*2a,g.541A>G|UGT1A6*2b,c.541A>G|UGT1A6*2b,g.541A>G|UGT1A6*2c,c.541A>G|UGT1A6*2c,g.541A>G|UGT1A6*2d,c.541A>G|UGT1A6*2d,g.541A>G|UGT1A6*2e,c.541A>G|UGT1A6*2e,g.541A>G|UGT1A6*5,c.541A>G|UGT1A6*5,g.541A>G|UGT1A6*6,c.541A>G|UGT1A6*6,g.541A>G|UGT1A6*7,c.541A>G|UGT1A6*7,g.541A>G|UGT1A6*8,c.541A>G|UGT1A6*8,g.541A>G" A/G A181|| PharmGKB:PA37181 rs2070959 hCV15868110 Mis-sense Mutation||Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_007120|NM_205862 GGGTTTTCCGTGTTCCCTGGAGCAT[A/G]CATTCAGCAGAAGCCCAGACCCTGT 234602191 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.4 0.26 0.2 0.1 Homo sapiens C___1173642_30 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 "UGT1A6*2,c.552A>C|UGT1A6*2a,c.552A>C|UGT1A6*2a,g.552A>C|UGT1A6*2b,c.552A>C|UGT1A6*2b,g.552A>C|UGT1A6*2c,c.552A>C|UGT1A6*2c,g.552A>C|UGT1A6*2d,c.552A>C|UGT1A6*2d,g.552A>C|UGT1A6*2e,c.552A>C|UGT1A6*2e,g.552A>C|UGT1A6*3,c.552A>C|UGT1A6*4a,c.552A>C|UGT1A6*4a,g.552A>C|UGT1A6*4b,c.552A>C|UGT1A6*4b,g.552A>C|UGT1A6*4c,c.552A>C|UGT1A6*4c,g.552A>C|UGT1A6*6,c.552A>C|UGT1A6*6,g.552A>C|UGT1A6*7,c.552A>C|UGT1A6*7,g.552A>C|UGT1A6*8,c.552A>C|UGT1A6*8,g.552A>C|UGT1A6*9,c.552A>C|UGT1A6*9,g.552A>C" A/C S184|| PharmGKB:PA37181 rs1105879 hCV1173642 Mis-sense Mutation||Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_007120|NM_205862 GTTCCCTGGAGCATACATTCAGCAG[A/C]AGCCCAGACCCTGTGTCCTACATTC 234602202 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.41 0.3 0.22 0.13 Homo sapiens C__25972736_20 UGT1A6 GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6 "UGT1A6*4b,c.627G>T|UGT1A6*4b,g.627G>T" G/T V209| PharmGKB:PA37181 rs17863783 hCV25972736 Silent Mutation|Intron "UDP glucuronosyltransferase 1 family, polypeptide A6" NM_001072|NM_205862 ACCACATGACTTTTTCCCAACGAGT[G/T]GCCAACTTCCTTGTTAATTTGTTGG 234602277 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0.01 0.12 0.01 0.02 Homo sapiens C__34418931_50 UGT1A4 UDPGT|UGT1D|HUG-BR2|UDPGT 1-4 A/G R6 rs72551336 hCV34418931 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A4" NM_007120 TCTGCTGAGATGGCCAGAGGACTCC[A/G]GGTTCCCCTGCCGCGGCTGGCCACA 234627483 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__25957120_10 UGT1A4 UDPGT|UGT1D|HUG-BR2|UDPGT 1-4 "UGT1A4*2,g.70C>A" A/C T24 rs6755571 hCV25957120 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A4" NM_007120 ACTGCTGCTCCTCCTCAGTGTCCAG[A/C]CCTGGGCTGAGAGTGGAAAGGTGTT 234627536 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.01 0 0 0 Homo sapiens C__25956395_10 UGT1A4 UDPGT|UGT1D|HUG-BR2|UDPGT 1-4 C/T Y68 rs45621441 hCV25956395 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A4" NM_007120 GGTCCTCACCCCAGAGGTGAATATG[C/T]ACATCAAAGAAGAGAAATTTTTCAC 234627668 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.01 0 0 0 Homo sapiens C__25963987_20 UGT1A4 UDPGT|UGT1D|HUG-BR2|UDPGT 1-4 C/T S113 rs28898610 hCV25963987 Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A4" NM_007120 ATCTTCTGAAGAGATATTCTAGAAG[C/T]ATGGCAATTATGAACAATGTATCTT 234627805 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0.01 0 0 Homo sapiens C__27860808_10 UGT1A4 UDPGT|UGT1D|HUG-BR2|UDPGT 1-4 C/T P132 rs72551337 hCV27860808 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A4" NM_007120 CTTCATAGGTGTTGTGTGGAGCTAC[C/T]GCATAATGAGGCCCTGATCAGGCAC 234627861 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C___8739217_10 UGT1A4 UDPGT|UGT1D|HUG-BR2|UDPGT 1-4 "UGT1A4*1b,g.471C>T" C/T C157 rs2011404 hCV8739217 Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A4" NM_007120 TTTTAACAGACCCCGTTAACCTCTG[C/T]GGGGCGGTGCTGGCTAAGTACCTGT 234627937 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.17 0.04 0.01 0.02 Homo sapiens C__34418934_40 UGT1A4 UDPGT|UGT1D|HUG-BR2|UDPGT 1-4 -/C hCV34418934 "UDP glucuronosyltransferase 1 family, polypeptide A4" NM_007120 CGACCAATTCAGACCACATGACATT[-/C]CTGCAAAGGGTCAAGAACATGCTCT 234628087 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0 0 0 0 Homo sapiens C___1432159_10 UGT1A3 UGT1C|UDPGT 1-3 "UGT1A3*2a,g.81G>A|UGT1A3*2b,g.81G>A|UGT1A3*3a,g.81G>A|UGT1A3*3b,g.81G>A|UGT1A3*5,g.81G>A" A/G |E27 rs6706232 hCV1432159 Intron|Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A3" NM_007120|NM_019093 TCCTCAGTGTCCAGCCCTGGGCTGA[A/G]AGTGGAAAGGTGTTGGTGGTGCCCA 234637853 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.49 0.21 0.24 0.32 Homo sapiens C__32051764_40 UGT1A3 UGT1C|UDPGT 1-3 C/T I144 rs13406898 hCV32051764 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A3" NM_019093 GCCCTGATCAGGCACCTGAATGCTA[C/T]TTCCTTTGATGTGGTTTTAACAGAC 234638203 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0.07 0 0 Homo sapiens C__11742263_10 UGT1A3 UGT1C|UDPGT 1-3 "UGT1A3*2b,g.477A>G|UGT1A3*3b,g.477A>G|UGT1A3*5,g.477A>G" A/G |A159 rs7574296 hCV11742263 Intron|Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A3" NM_007120|NM_019093 CAGACCCCGTTAACCTCTGCGCGGC[A/G]GTGCTGGCTAAGTACCTGTCGATTC 234638249 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.5 0.22 0.25 0.32 Homo sapiens C__34418942_20 UGT1A3 UGT1C|UDPGT 1-3 -/C rs72551338 hCV34418942 Frame Shift InDel "UDP glucuronosyltransferase 1 family, polypeptide A3" NM_019093 TACTGTGTTTTTTTTGAGGAACATT[-/C]CATGTGATTTAGACTTTAAGGGCAC 234638301 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C___1432134_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*60,g.-3279T>G" G/T PharmGKB:PA420 rs4124874 hCV1432134 "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 AAGCTGGCCAAGGGTAGAGTTCAGT[G/T]TGAACAAAGCAATTTGAGAACATCA 234665659 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0.44 0.15 0.25 0.31 Homo sapiens C__11473597_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*44,c.115 C>G|UGT1A1*44,g.115C>G" C/G D39 PharmGKB:PA420 rs72551339 hCV11473597 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 ACTGTTGATCCCAGTGGATGGCAGC[C/G]ACTGGCTGAGCATGCTTGGGGCCAT 234669048 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0 0 0 0 Homo sapiens C____559715_20 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*6,c.211G>A|UGT1A1*6,g.211G>A" A/G R71| PharmGKB:PA420 rs4148323 hCV559715 Mis-sense Mutation|Intron "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463|NM_007120 TGACGCCTCGTTGTACATCAGAGAC[A/G]GAGCATTTTACACCTTGAAGACGTA 234669144 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0.2 0.11 Homo sapiens C__11473601_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*45,c.222C>A|UGT1A1*45,g.222C>A" A/C X74 PharmGKB:PA420 rs72551340 hCV11473601 Nonsense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 TGTACATCAGAGACGGAGCATTTTA[A/C]ACCTTGAAGACGTACCCTGTGCCAT 234669155 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__27860696_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*62,c.247T>C|UGT1A1*62,g.247T>C" C/T L83 PharmGKB:PA420 rs56059937 hCV27860696 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 CACCTTGAAGACGTACCCTGTGCCA[C/T]TCCAAAGGGAGGATGTGAAAGAGTC 234669180 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__11473602_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*12,c.524T>A|UGT1A1*12,g.524T>A" A/T Q175 PharmGKB:PA420 rs72551341 hCV11473602 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 CCCACTGTATTCTTCTTGCATGCAC[A/T]GCCATGCAGCCTGGAATTTGAGGCT 234669457 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__11473607_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*15,c.529T>C|UGT1A1*15,g.529T>C" C/T R177 PharmGKB:PA420 rs72551342 hCV11473607 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 TGTATTCTTCTTGCATGCACTGCCA[C/T]GCAGCCTGGAATTTGAGGCTACCCA 234669462 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0 0 0 0 Homo sapiens C__11473608_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*8,c.625C>T|UGT1A1*8,g.625C>T" C/T W209 PharmGKB:PA420 rs72551343 hCV11473608 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 TTCAGATCACATGACCTTCCTGCAG[C/T]GGGTGAAGAACATGCTCATTGCCTT 234669558 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__27860697_20 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*48,g.674T>G" G/T G225 PharmGKB:PA420 rs35003977 hCV27860697 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 TTTTCACAGAACTTTCTGTGCGACG[G/T]GGTTTATTCCCCGTATGCAACCCTT 234669607 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0.01 0 0 Homo sapiens C___2307598_20 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*27,c.686C>A|UGT1A1*27,g.686C>A" A/C Q229 PharmGKB:PA420 rs35350960 hCV2307598 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 TTTCTGTGCGACGTGGTTTATTCCC[A/C]GTATGCAACCCTTGCCTCAGAATTC 234669619 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0.03 Homo sapiens C__30634142_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*43,c.698 A>C|UGT1A1*43,g.698T>G" G/T R233 PharmGKB:PA420 rs72551344 hCV30634142 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 GTGGTTTATTCCCCGTATGCAACCC[G/T]TGCCTCAGAATTCCTTCAGAGAGAG 234669631 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__26000796_20 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A C/T P250 PharmGKB:PA420 rs57307513 hCV26000796 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 GGTGACTGTCCAGGACCTATTGAGC[C/T]CTGCATCTGTCTGGCTGTTTAGAAG 234669681 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0.01 0 0 0 Homo sapiens C__34816144_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*14,g.826G>C" C/G R276 PharmGKB:PA420 rs72551345 hCV34816144 Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 CATCATGCCCAATATGGTTTTTGTT[C/G]GTGGAATCAACTGCCTTCACCAAAA 234669759 NCBI Build 37.1 Human "2q37.1,2q37.1d" 2 0 0 0 0 Homo sapiens C__34816145_10 UGT1A1 HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A "UGT1A1*10,g.1021C>T" C/T PharmGKB:PA420 rs72551346 hCV34816145 Intron "UDP glucuronosyltransferase 1 family, polypeptide A1" NM_000463 TTGACTCCTAGGTTTGAGTCTGTCT[C/T]TGGCATCATCTTCTGGATGATTTCT 234669954 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__11473614_20 UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9|UDPGT|UGT1D|HUG-BR2| C/T T294|T293|T295|T291|T291|T291|T295|T291|T26 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551347 hCV11473614 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019093|NM_021027|NM_205862 TGGCTCTAGGAATTTGAAGCCTACA[C/T]TAATGCTTCTGGAGAACATGGAATT 234675696 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C____559694_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*11,c.923G>A" A/G E308|E307|E309|E305|E305|E305|E309|E309|E305|E40 PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419|PharmGKB:PA420 rs62625011 hCV559694 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CATGGAATTGTGGTTTTCTCTTTGG[A/G]ATCAATGGTCTCAGAAATTCCAGAG 234675738 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__11473628_20 UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1-9|UDPGT|UGT1D|HUG-BR2| C/T X341|X340|X342|X338|X338|X338|X342|X338|X73 PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419|PharmGKB:PA420|PharmGKB:PA37181 rs72551349 hCV11473628 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019093|NM_021027|NM_205862 GGTCCTGTGGCGGTACACTGGAACC[C/T]GACCATCGAATCTTGCGAACAACAC 234676519 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__27864152_20 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*4,c.1069C>T" C/T X357|X356|X358|X354|X354|X354|X358|X358|X354|X89 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551350 hCV27864152 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CACGATACTTGTTAAGTGGCTACCC[C/T]AAAACGATCTGCTTGGTATGTTGGG 234676567 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C___2307589_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*29,c.1099C>G" C/G G367|G366|G368|G364|G364|G364|G368|G368|G364|G99 PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419|PharmGKB:PA420|PharmGKB:PA37181 rs55750087 hCV2307589 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 TTGCATCTCAGGTCACCCGATGACC[C/G]GTGCCTTTATCACCCATGCTGGTTC 234676880 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C__27864154_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*20,c.1102G>A" A/G T368|T367|T369|T365|T365|T365|T369|T369|T365|T100 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551352 hCV27864154 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CATCTCAGGTCACCCGATGACCCGT[A/G]CCTTTATCACCCATGCTGGTTCCCA 234676883 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C___2307587_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*3,c.1124C>T" C/T F375|F374|F376|F372|F372|F372|F376|F376|F372|F107 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551353 hCV2307587 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CGTGCCTTTATCACCCATGCTGGTT[C/T]CCATGGTGTTTATGAAAGCATATGC 234676905 NCBI Build 37.1 Human "2q37.1d,2q37.1" 2 0 0 0 0 Homo sapiens C___2307586_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*17,c.1143C>G" C/G R381|R380|R382|R378|R378|R378|R382|R382|R378|R113 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551354 hCV2307586 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CTGGTTCCCATGGTGTTTATGAAAG[C/G]ATATGCAATGGCGTTCCCATGGTGA 234676924 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C___2307585_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*18,c.1201G>C|UGT1A1*39,c.1201G>C" C/G P401|P400|P402|P398|P398|P398|P402|P402|P398|P133 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551355 hCV2307585 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CTTGTTTGGTGATCAGATGGACAAT[C/G]CAAAGCGCATGGAGACTAAGGGAGC 234676982 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C___2307584_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*23,c.1282A>G|UGT1A1*40,c.1282A>G" A/G E428|E427|E429|E425|E425|E425|E429|E429|E425|E160 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551356 hCV2307584 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 TTCTGAAGATTTAGAAAATGCTCTA[A/G]AAGCAGTCATCAATGACAAAAGGTA 234677063 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C___2307583_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*24,c.1309A>T" A/T X437|X436|X438|X434|X434|X434|X438|X438|X434|X169 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551357 hCV2307583 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CGAAACTGTCTTTGTGTTTAGTTAC[A/T]AGGAGAACATCATGCGCCTCTCCAG 234680912 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C__11473635_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- A/C A463|A462|A464|A460|A460|A460|A464|A464|A460|A195 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551358 hCV11473635 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 CTGGACCTGGCCGTGTTCTGGGTGG[A/C]GTTTGTGATGAGGCACAAGGGCGCG 234680991 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C___8570123_30 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- A/C M474|M473|M475|M471|M471|M471|M475|M475|M471|M206 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551359 hCV8570123 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GATGAGGCACAAGGGCGCGCCACAC[A/C]TGCGCCCCGCAGCCCACGACCTCAC 234681023 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C__25992439_20 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- C/T P476|P475|P477|P473|P473|P473|P477|P477|P473|P208 PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419|PharmGKB:PA420|PharmGKB:PA37181 rs28900406 hCV25992439 Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation|Silent Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 ACAAGGGCGCGCCACACCTGCGCCC[C/T]GCAGCCCACGACCTCACCTGGTACC 234681031 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0.04 0 0 Homo sapiens C__27528606_20 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- "UGT1A1*7,c.1456T>G" G/T D486|D485|D487|D483|D483|D483|D487|D487|D483|D218 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs34993780 hCV27528606 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 AGCCCACGACCTCACCTGGTACCAG[G/T]ACCATTCCTTGGACGTGATTGGTTT 234681059 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0.01 Homo sapiens C___2307581_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- C/T F488|F487|F489|F485|F485|F485|F489|F489|F485|F220 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551360 hCV2307581 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GACCTCACCTGGTACCAGTACCATT[C/T]CTTGGACGTGATTGGTTTCCTCTTG 234681066 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C__11473640_10 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- A/T X496|X495|X497|X493|X493|X493|X497|X497|X493|X228 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs72551361 hCV11473640 Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation|Nonsense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 TCCTTGGACGTGATTGGTTTCCTCT[A/T]GGCCGTCGTGCTGACAGTGGCCTTC 234681090 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens C___7607421_30 UGT1A5|UGT1A8|UGT1A10|UGT1A6|UGT1A7|UGT1A3|UGT1A1|UGT1A9|UGT1A4 UDPGT|UGT1E|UDPGT 1-5|UDPGT|UGT1H|UGT1A8S|UDPGT 1-8|UDPGT|UGT1J|GNT1|UGT1|HLUGP|UDPGT|UGT1F|HLUGP1|UGT1A6S|MGC29860|UDPGT 1-6|UDPGT|UGT1G|UDPGT 1-7|UGT1C|UDPGT 1-3|HUG-BR1|BILIQTL1|UDPGT 1-1|GNT1|UGT1|UDPGT|UGT1A|LUGP4|UDPGT|HLUGP4|UGT1AI|UGT1-09|UDPGT 1- C/G P511|P510|P512|P508|P508|P508|P512|P512|P508|P243 PharmGKB:PA420|PharmGKB:PA37181|PharmGKB:PA37182|PharmGKB:PA37183|PharmGKB:PA419 rs1042709 hCV7607421 Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation|Mis-sense Mutation "UDP glucuronosyltransferase 1 family, polypeptide A5|UDP glucuronosyltransferase 1 family, polypeptide A8|UDP glucuronosyltransferase 1 family, polypeptide A10|UDP glucuronosyltransferase 1 family, polypeptide A6|UDP glucuronosyltransferase 1 family, polypeptide A7|UDP glucuronosyltransferase 1 family, polypeptide A3|UDP glucuronosyltransferase 1 family, polypeptide A1|UDP glucuronosyltransferase 1 family, polypeptide A9|UDP glucuronosyltransferase 1 family, polypeptide A4" NM_000463|NM_001072|NM_007120|NM_019075|NM_019076|NM_019077|NM_019078|NM_019093|NM_021027|NM_205862 GGCCTTCATCACCTTTAAATGTTGT[C/G]CTTATGGCTACCGGAAATGCTTGGG 234681134 NCBI Build 37.1 Human "2q37.1e,2q37.1" 2 0 0 0 0 Homo sapiens