Search Result
| Gene id | 9 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Summary |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gene Symbol | NAT1 Gene UCSC Ensembl | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AAC1, MNAT, NAT-1, NATI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gene name | N-acetyltransferase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Alternate names | arylamine N-acetyltransferase 1, N-acetyltransferase 1 (arylamine N-acetyltransferase), N-acetyltransferase type 1, arylamide acetylase 1, monomorphic arylamine N-acetyltransferase, | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gene location |
8p22 (6556554: 6451262) Exons: 22 NC_000017.11 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gene summary(Entrez) |
This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and h |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| OMIM | 108345 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SNPs |
rs1131692251 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.52357615T>G NC_000003.11 g.52391631T>G NG_052911.1 g.46297T>G NM_015512.5 c.3860T>G NM_015512.4 c.3860T>G XR_001740098.1 n.7009T>G XM_017006129.1 c.3860T>G XM_017006130.1 c.3860T>G XM_017006131.1 c.3860T>G XR_001740099.1 n.7009T>G XM_0 rs1131692250 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.52386159G>A NC_000003.12 g.52386159G>C NC_000003.11 g.52420175G>A NC_000003.11 g.52420175G>C NG_052911.1 g.74841G>A NG_052911.1 g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1 rs1131692234 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.52397706G>A NC_000003.11 g.52431722G>A NG_052911.1 g.86388G>A|SEQ=[G/A]|GENE=DNAH1 rs879255539 Strand: Allele origin: Allele change: Mutation type: delins NC_000023.11 g.19003070_19003074delinsTCT NC_000023.10 g.19021188_19021192delinsTCT NG_021304.1 g.124564_124568delinsAGA NM_005756.3 c.1993_1997delinsAGA NM_005756.4 c.1993_1997delinsAGA NM_001079858.3 c.2002_2006delinsAGA NM_001079858.2 c.2002_2006d rs879255538 Strand: Allele origin: Allele change: Mutation type: delins NC_000023.11 g.18994921del NC_000023.10 g.19013039del NG_021304.1 g.132718del NM_005756.3 c.2836del NM_005756.4 c.2836del NM_001079858.3 c.2845del NM_001079858.2 c.2845del NM_001079859.2 c.2803del NM_001079859.3 c.2803del NM_001079860.2 c.2779del NM_ rs875989885 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.133555706G>A NC_000010.10 g.135369210G>A NG_052008.1 g.17570C>T NM_130784.3 c.613C>T NM_130784.2 c.613C>T NM_001143764.2 c.721C>T NM_001143764.3 c.721C>T NM_001143764.1 c.721C>T NM_001143763.1 c.721C>T NP_570140.1 p.Gln205Ter NP_001137 rs786204822 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.49016546C>A NC_000019.10 g.49016546C>G NC_000019.9 g.49519803C>A NC_000019.9 g.49519803C>G NG_033041.1 g.27648C>A NG_033041.1 g.27648C>G NG_011464.1 g.5545G>T NG_011464.1 g.5545G>C|SEQ=[C/A/G]|GENE=LHB rs780798708 Strand: Allele origin: Allele change: Mutation type: del NC_000003.12 g.113380945_113380946del NC_000003.11 g.113099792_113099793del NM_018338.3 c.2005_2006del NM_001164496.2 c.2005_2006del NM_001164496.1 c.2005_2006del NP_060808.2 p.Met669fs NP_001157968.1 p.Met669fs|SEQ=[AT/-]|GENE=CFAP44 rs779490893 Strand: Allele origin: Allele change: Mutation type: del NC_000003.12 g.52396983_52396984del NC_000003.11 g.52430999_52431000del NG_052911.1 g.85665_85666del NM_015512.5 c.11726_11727del NM_015512.4 c.11726_11727del XR_001740098.1 n.14944_14945del XM_017006129.1 c.11795_11796del XM_017006130.1 c.11726_1172 rs774225566 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.133558953T>C NC_000010.10 g.135372457T>C NG_052008.1 g.14323A>G|SEQ=[T/C]|GENE=SYCE1 rs757326350 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.18688215T>A NC_000012.12 g.18688215T>C NC_000012.11 g.18841149T>A NC_000012.11 g.18841149T>C NG_050635.1 g.450251T>A NG_050635.1 g.450251T>C NG_052826.1 g.54845A>T NG_052826.1 g.54845A>G NM_033123.4 c.1465A>T NM_033123.4 c.1465A>G NM_0 rs587777031 Strand: Allele origin: Allele change: Mutation type: delins NC_000010.11 g.119030032_119030034CTC[1] NC_000010.11 g.119030032_119030034CTC[3] NC_000010.11 g.119030032_119030034CTC[5] NC_000010.10 g.120789544_120789546CTC[1] NC_000010.10 g.120789544_120789546CTC[3] NC_000010.10 g.120789544_120789546CTC[5] NG_0 rs398123027 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.35943953G>A NC_000006.11 g.35911730G>A NG_033897.1 g.85684C>T NM_052961.4 c.2860C>T NM_052961.3 c.2860C>T NM_001193476.2 c.2860C>T NM_001193476.1 c.2860C>T NM_138718.2 c.2545C>T XM_011514294.3 c.2782C>T XM_017010235.1 c.2860C>T NP_4431 rs397515622 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.55491203C>A NC_000015.9 g.55783401C>A NG_021213.1 g.22032G>T NM_130810.4 c.325G>T NM_130810.3 c.325G>T NM_001033559.2 c.325G>T NM_001033560.1 c.325G>T NR_037923.1 n.580G>T NP_570722.2 p.Glu109Ter NP_001028731.1 p.Glu109Ter NP_001028732 rs397515563 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.34517468G>A NC_000009.11 g.34517466G>A NG_008127.1 g.63656G>A|SEQ=[G/A]|GENE=DNAI1 rs397515484 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.57233458A>G NC_000019.9 g.57744826A>G NG_012134.1 g.7450A>G|SEQ=[A/G]|GENE=AURKC rs397515461 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.132632831G>A NC_000008.10 g.133645077G>A NG_033068.1 g.47787C>T NM_012472.5 c.562C>T NM_012472.6 c.562C>T NM_012472.4 c.562C>T NR_073525.2 n.686C>T NR_073525.1 n.686C>T NM_001321965.1 c.202C>T NM_001321965.2 c.202C>T NM_001321964.1 c.2 rs397515425 Strand: Allele origin: Allele change: Mutation type: delins NC_000008.11 g.132632818dup NC_000008.10 g.133645064dup NG_033068.1 g.47801dup NM_012472.5 c.576dup NM_012472.6 c.576dup NM_012472.4 c.576dup NR_073525.2 n.700dup NR_073525.1 n.700dup NM_001321965.1 c.216dup NM_001321965.2 c.216dup NM_001321964.1 c.2 rs397515424 Strand: Allele origin: Allele change: Mutation type: del NC_000008.11 g.132632794_132632795del NC_000008.10 g.133645040_133645041del NG_033068.1 g.47823_47824del NM_012472.5 c.598_599del NM_012472.6 c.598_599del NM_012472.4 c.598_599del NR_073525.2 n.722_723del NR_073525.1 n.722_723del NM_001321965.1 c.238 rs397515395 Strand: Allele origin: Allele change: Mutation type: delins NC_000019.10 g.55161685dup NC_000019.9 g.55673053dup NG_007866.2 g.1048dup NG_032759.1 g.10038dup NM_178837.4 c.762dup NM_001256715.2 c.621dup NM_001256715.1 c.621dup NM_001256716.1 c.459dup NM_001256714.1 c.825dup NP_849159.2 p.Val255fs NP_001243644 rs397515392 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.180661860C>G NC_000003.11 g.180379648C>G NG_029581.1 g.22636G>C|SEQ=[C/G]|GENE=CCDC39 rs397515363 Strand: Allele origin: Allele change: Mutation type: delins NC_000009.12 g.34459055dup NC_000009.11 g.34459053dup NG_008127.1 g.5243dup NG_027971.1 g.4516dup|SEQ=[T/TT]|GENE=DNAI1 FAM219A 203259 rs397515358 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.74286974T>G NC_000017.10 g.72283113T>G NG_016865.1 g.17728T>G|SEQ=[T/G]|GENE=DNAI2 rs397514596 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.132656866C>G NC_000008.10 g.133669112C>G NG_033068.1 g.23752G>C NM_012472.5 c.220G>C NM_012472.6 c.220G>C NM_012472.4 c.220G>C NR_073525.2 n.344G>C NR_073525.1 n.344G>C NM_001321965.1 c.-454G>C NM_001321965.2 c.-454G>C NR_135912.1 n.10 rs397514561 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.780097T>C NC_000007.13 g.819734T>C NG_033137.1 g.58397T>C NM_017802.4 c.2384T>C NM_017802.3 c.2384T>C NR_075098.1 n.2342T>C XM_024446814.1 c.1778T>C NP_060272.3 p.Leu795Pro XP_024302582.1 p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5 rs387907152 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.55165427G>A NC_000019.9 g.55676795G>A NG_032759.1 g.6296C>T NM_178837.4 c.406C>T NM_001256715.2 c.265C>T NM_001256715.1 c.265C>T NM_001256716.1 c.103C>T NM_001256714.1 c.469C>T NP_849159.2 p.Arg136Ter NP_001243644.1 p.Arg89Ter NP_00124 rs387907151 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.55165904A>G NC_000019.9 g.55677272A>G NG_032759.1 g.5819T>C NM_178837.4 c.323T>C NM_001256715.2 c.182T>C NM_001256715.1 c.182T>C NM_001256716.1 c.-57T>C NM_001256714.1 c.386T>C NP_849159.2 p.Leu108Pro NP_001243644.1 p.Leu61Pro NP_00124 rs376252276 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.34513112G>A NC_000009.12 g.34513112G>C NC_000009.12 g.34513112G>T NC_000009.11 g.34513110G>A NC_000009.11 g.34513110G>C NC_000009.11 g.34513110G>T NG_008127.1 g.59300G>A NG_008127.1 g.59300G>C NG_008127.1 g.59300G>T NM_012144.4 c.1490G rs200321595 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.132632957C>G NC_000008.10 g.133645203C>G NG_033068.1 g.47661G>C NM_012472.5 c.436G>C NM_012472.6 c.436G>C NM_012472.4 c.436G>C NR_073525.2 n.560G>C NR_073525.1 n.560G>C NM_001321965.1 c.76G>C NM_001321965.2 c.76G>C NM_001321964.1 c.76G rs147088100 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.70853248G>A NC_000023.10 g.70073098G>A NG_012574.2 g.60470C>T NG_012574.1 g.60470C>T NM_031276.2 c.405C>T NM_031276.3 c.405C>T NM_001003811.1 c.450C>T NM_001003811.2 c.450C>T XM_011530994.1 c.405C>T XM_017029649.1 c.405C>T|SEQ=[G/A]|GE rs143246552 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.70853093T>C NC_000023.10 g.70072943T>C NG_012574.2 g.60625A>G NG_012574.1 g.60625A>G NM_031276.3 c.466A>G NM_031276.2 c.466A>G NM_001003811.2 c.511A>G NM_001003811.1 c.511A>G XM_011530994.1 c.466A>G XM_017029649.1 c.466A>G NP_112566.2 rs142724470 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.35951201C>T NC_000006.11 g.35918978C>T NG_033897.1 g.78436G>A NM_052961.4 c.2434G>A NM_052961.3 c.2434G>A NM_001193476.2 c.2434G>A NM_001193476.1 c.2434G>A NM_138718.2 c.2119G>A XM_011514294.3 c.2356G>A XM_017010235.1 c.2434G>A NP_4431 rs141945265 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.132632819G>A NC_000008.11 g.132632819G>C NC_000008.10 g.133645065G>A NC_000008.10 g.133645065G>C NG_033068.1 g.47799C>T NG_033068.1 g.47799C>G NM_012472.5 c.574C>T NM_012472.5 c.574C>G NM_012472.6 c.574C>T NM_012472.6 c.574C>G NM_01247 rs140984555 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.70605421C>T NC_000023.10 g.69825271C>T NG_012574.2 g.308297G>A NG_012574.1 g.308297G>A NM_031276.2 c.2047G>A NM_031276.3 c.2047G>A NM_001003811.1 c.2092G>A NM_001003811.2 c.2092G>A XM_017029652.2 c.856G>A XM_011530994.1 c.2047G>A XM_01 rs140883175 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.52357632G>A NC_000003.12 g.52357632G>C NC_000003.11 g.52391648G>A NC_000003.11 g.52391648G>C NG_052911.1 g.46314G>A NG_052911.1 g.46314G>C NM_015512.5 c.3877G>A NM_015512.5 c.3877G>C NM_015512.4 c.3877G>A NM_015512.4 c.3877G>C XR_00174 rs140210148 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.36012301C>T NC_000006.11 g.35980078C>T NG_033897.1 g.17336G>A NM_052961.4 c.260G>A NM_052961.3 c.260G>A NM_001193476.2 c.260G>A NM_001193476.1 c.260G>A NM_138718.2 c.260G>A XM_011514294.3 c.260G>A XR_926055.3 n.370G>A XM_017010235.1 c. rs118204043 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.116628175C>T NC_000006.11 g.116949338C>T NG_012934.1 g.16697C>T NM_001010892.2 c.1468C>T NM_001010892.3 c.1468C>T NM_001161664.1 c.1468C>T XM_017010826.1 c.1468C>T NP_001010892.1 p.Arg490Ter NP_001155136.1 p.Arg490Ter XP_016866315.1 p. rs118204042 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.116616948C>T NC_000006.11 g.116938111C>T NG_012934.1 g.5470C>T NM_001010892.2 c.325C>T NM_001010892.3 c.325C>T NM_001161664.1 c.325C>T XM_017010826.1 c.325C>T NP_001010892.1 p.Gln109Ter NP_001155136.1 p.Gln109Ter XP_016866315.1 p.Gln10 rs118204041 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.116617083C>T NC_000006.11 g.116938246C>T NG_012934.1 g.5605C>T NM_001010892.2 c.460C>T NM_001010892.3 c.460C>T NM_001161664.1 c.460C>T XM_017010826.1 c.460C>T NP_001010892.1 p.Gln154Ter NP_001155136.1 p.Gln154Ter XP_016866315.1 p.Gln15 rs113994148 Strand: Allele origin: Allele change: Mutation type: del NC_000011.10 g.66849026_66849027del NC_000011.9 g.66616497_66616498del NG_008319.1 g.114350_114351del NM_000920.4 c.3409_3410del NM_000920.3 c.3409_3410del NM_022172.3 c.3409_3410del NM_022172.2 c.3409_3410del NM_001040716.2 c.3409_3410del NM_0010407 rs113994147 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66850398G>A NC_000011.9 g.66617869G>A NG_008319.1 g.112979C>T NM_000920.4 c.2540C>T NM_000920.3 c.2540C>T NM_022172.3 c.2540C>T NM_022172.2 c.2540C>T NM_001040716.2 c.2540C>T NM_001040716.1 c.2540C>T XM_005274031.4 c.2540C>T XM_0052740 rs113994146 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66851149G>T NC_000011.9 g.66618620G>T NG_008319.1 g.112228C>A NM_000920.4 c.2114C>A NM_000920.3 c.2114C>A NM_022172.3 c.2114C>A NM_022172.2 c.2114C>A NM_001040716.2 c.2114C>A NM_001040716.1 c.2114C>A XM_005274031.4 c.2114C>A XM_0052740 rs113994145 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66851880C>T NC_000011.9 g.66619351C>T NG_008319.1 g.111497G>A NM_000920.4 c.1892G>A NM_000920.3 c.1892G>A NM_022172.3 c.1892G>A NM_022172.2 c.1892G>A NM_001040716.2 c.1892G>A NM_001040716.1 c.1892G>A XM_005274031.4 c.1892G>A XM_0052740 rs113994144 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66852559T>C NC_000011.9 g.66620030T>C NG_008319.1 g.110818A>G NM_000920.4 c.1705A>G NM_000920.3 c.1705A>G NM_022172.3 c.1705A>G NM_022172.2 c.1705A>G NM_001040716.2 c.1705A>G NM_001040716.1 c.1705A>G XM_005274031.4 c.1705A>G XM_0052740 rs113994143 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66863791G>A NC_000011.9 g.66631262G>A NG_008319.1 g.99586C>T NM_000920.4 c.1351C>T NM_000920.3 c.1351C>T NM_022172.3 c.1351C>T NM_022172.2 c.1351C>T NM_001040716.2 c.1351C>T NM_001040716.1 c.1351C>T XM_005274031.4 c.1351C>T XM_00527403 rs113994141 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66871824G>A NC_000011.9 g.66639295G>A NG_008319.1 g.91553C>T NM_000920.4 c.184C>T NM_000920.3 c.184C>T NM_022172.3 c.184C>T NM_022172.2 c.184C>T NM_001040716.2 c.184C>T NM_001040716.1 c.184C>T XM_005274031.4 c.184C>T XM_005274031.1 c.1 rs62180545 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.216859821A>G NC_000002.11 g.217724544A>G|SEQ=[A/G]|GENE=TNP1 LOC101928278 101928278 rs61758741 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.154959219T>C NC_000001.10 g.154931695T>C NM_138300.4 c.781A>G NM_138300.3 c.781A>G NP_612157.1 p.Lys261Glu|SEQ=[T/C]|GENE=PYGO2 rs61758740 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.154959577C>T NC_000001.10 g.154932053C>T NM_138300.4 c.423G>A NM_138300.3 c.423G>A NP_612157.1 p.Met141Ile|SEQ=[C/T]|GENE=PYGO2 LOC101928120 101928120 rs61733416 Strand: Allele origin: Allele change: Mutation type: snv NC_000018.10 g.63318367G>A NC_000018.9 g.60985600G>A NG_009361.1 g.6014C>T NM_000633.2 c.300C>T NM_000657.2 c.300C>T XM_011526135.3 c.300C>T XR_935248.3 n.1693C>T XM_017025917.2 c.300C>T|SEQ=[G/A]|GENE=BCL2 rs55763075 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.11790377C>T NC_000001.10 g.11850434C>T NG_013351.1 g.20727G>A NM_005957.5 c.*303G>A NM_005957.4 c.*303G>A NM_001330358.1 c.*303G>A XM_005263460.5 c.*303G>A XM_005263460.1 c.*303G>A XM_005263463.4 c.*303G>A XM_005263463.1 c.*303G>A XM_0 rs35576928 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11281137C>A NC_000016.10 g.11281137C>G NC_000016.9 g.11374994C>A NC_000016.9 g.11374994C>G NM_002761.3 c.102G>T NM_002761.3 c.102G>C NM_002761.2 c.102G>T NM_002761.2 c.102G>C NP_002752.1 p.Arg34Ser NP_002752.1 p.Arg34Ser|SEQ=[C/A/G]|GE rs35262993 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11281185C>T NC_000016.9 g.11375042C>T NM_002761.3 c.54G>A NM_002761.2 c.54G>A|SEQ=[C/T]|GENE=PRM1 LOC105371082 105371082 rs28940591 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66871368A>C NC_000011.10 g.66871368A>G NC_000011.9 g.66638839A>C NC_000011.9 g.66638839A>G NG_008319.1 g.92009T>G NG_008319.1 g.92009T>C NM_000920.4 c.434T>G NM_000920.4 c.434T>C NM_000920.3 c.434T>G NM_000920.3 c.434T>C NM_022172.3 c. rs28940590 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66850918C>A NC_000011.9 g.66618389C>A NG_008319.1 g.112459G>T NM_000920.4 c.2229G>T NM_000920.3 c.2229G>T NM_022172.3 c.2229G>T NM_022172.2 c.2229G>T NM_001040716.2 c.2229G>T NM_001040716.1 c.2229G>T XM_005274031.4 c.2229G>T XM_0052740 rs28940589 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66851944C>T NC_000011.9 g.66619415C>T NG_008319.1 g.111433G>A NM_000920.4 c.1828G>A NM_000920.3 c.1828G>A NM_022172.3 c.1828G>A NM_022172.2 c.1828G>A NM_001040716.2 c.1828G>A NM_001040716.1 c.1828G>A XM_005274031.4 c.1828G>A XM_0052740 rs28606463 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.213929934C>T NC_000002.11 g.214794658C>T|SEQ=[C/T]|GENE=SPAG16 rs28362491 Strand: Allele origin: Allele change: Mutation type: delins NC_000004.12 g.102500998_102501001ATTG[1] NC_000004.11 g.103422155_103422158ATTG[1] NG_050628.1 g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1 LOC105377621 105377621 rs17840762 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.125241708G>A NC_000009.11 g.128003987G>A NG_027761.1 g.4680C>T NG_063123.1 g.439G>A XR_001746927.1 n.46G>A|SEQ=[G/A]|GENE=HSPA5 LOC107987127 107987127 rs17840761 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.125241700G>A NC_000009.11 g.128003979G>A NG_027761.1 g.4688C>T NG_063123.1 g.431G>A XR_001746927.1 n.38G>A|SEQ=[G/A]|GENE=HSPA5 LOC107987127 107987127 rs16968382 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.76586021A>C NC_000015.9 g.76878362A>C|SEQ=[A/C]|GENE=SCAPER MIR3713 100500855 rs16927997 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.125236118A>G NC_000009.11 g.127998397A>G NG_027761.1 g.10270T>C NM_005347.5 c.*474T>C NM_005347.4 c.*474T>C|SEQ=[A/G]|GENE=HSPA5 rs16891278 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.42401679A>G NC_000008.11 g.42401679A>T NC_000008.10 g.42259197A>G NC_000008.10 g.42259197A>T|SEQ=[A/G/T]|GENE=VDAC3 rs16851495 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.214108287G>A NC_000002.11 g.214973011G>A|SEQ=[G/A]|GENE=SPAG16 rs12988374 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.214410278C>T NC_000002.11 g.215275002C>T NM_024532.5 c.1859C>T NM_024532.4 c.1859C>T XM_011511823.3 c.1550C>T XM_011511821.2 c.1577C>T XM_011511819.2 c.1697C>T XM_011511820.2 c.1673C>T XM_017004897.1 c.1502C>T NR_047659.1 n.2139C>T XM_ rs12988372 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.214410273C>A NC_000002.12 g.214410273C>T NC_000002.11 g.215274997C>A NC_000002.11 g.215274997C>T NM_024532.5 c.1854C>A NM_024532.5 c.1854C>T NM_024532.4 c.1854C>A NM_024532.4 c.1854C>T XM_011511823.3 c.1545C>A XM_011511823.3 c.1545C>T rs12870438 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.42906069G>A NC_000013.10 g.43480205G>A NG_051573.1 g.91244C>T|SEQ=[G/A]|GENE=EPSTI1 rs724078 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.29521271G>A NC_000006.11 g.29489048G>A NT_113891.3 g.1007734G>A NT_113891.2 g.1007840G>A NT_167248.2 g.786742A>G NT_167248.1 g.792338A>G NT_167245.2 g.786798G>A NT_167245.1 g.792383G>A NT_167249.2 g.830287G>A NT_167249.1 g.829585G>A NT rs12623569 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.213930019A>C NC_000002.11 g.214794743A>C NM_024532.5 c.1274A>C NM_024532.4 c.1274A>C XM_011511823.3 c.965A>C XM_011511816.3 c.1274A>C XM_011511821.2 c.992A>C XM_011511819.2 c.1112A>C XM_011511815.2 c.1274A>C XM_011511817.2 c.1274A>C XM rs12088543 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.84252300T>C NC_000001.10 g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046 rs12082710 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.91689780T>A NC_000001.11 g.91689780T>C NC_000001.10 g.92155337T>A NC_000001.10 g.92155337T>C NG_027757.1 g.221223A>T NG_027757.1 g.221223A>G|SEQ=[T/A/C]|GENE=TGFBR3 rs11769380 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.6002891C>T NC_000007.13 g.6042522C>T NG_008466.1 g.11216G>A|SEQ=[C/T]|GENE=PMS2 rs11754464 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31755958C>T NC_000006.11 g.31723735C>T NG_011611.1 g.20962C>T NT_113891.3 g.3233215C>T NT_113891.2 g.3233321C>T NT_167245.2 g.3003732C>T NT_167245.1 g.3009317C>T NT_167247.2 g.3097847C>T NT_167247.1 g.3103432C>T NT_167248.2 g.3011780C> rs11677854 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48664148C>T NC_000002.11 g.48891287C>T NG_033050.2 g.139224C>T NG_033050.1 g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L STON1-GTF2A1L 286749 rs10841496 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.20368720C>A NC_000012.11 g.20521654C>A NG_030033.1 g.4476C>A NM_000921.5 c.-565C>A NM_001378408.1 c.-1593C>A NM_001378407.1 c.-565C>A|SEQ=[C/A]|GENE=PDE3A rs10250822 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17293365C>A NC_000007.14 g.17293365C>G NC_000007.14 g.17293365C>T NC_000007.13 g.17332989C>A NC_000007.13 g.17332989C>G NC_000007.13 g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609 rs10247158 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17285544A>T NC_000007.13 g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609 rs10244329 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.128248636A>T NC_000007.13 g.127888689A>T NG_007450.1 g.12359A>T|SEQ=[A/T]|GENE=LEP rs10167688 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.213489990C>A NC_000002.11 g.214354714C>A NM_024532.5 c.970C>A NM_024532.4 c.970C>A XM_011511823.3 c.661C>A XM_011511816.3 c.970C>A XM_011511821.2 c.688C>A XM_011511819.2 c.808C>A XM_011511820.2 c.970C>A XM_011511815.2 c.970C>A XM_01151 rs9852810 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.37027478G>A NC_000003.11 g.37068969G>A NG_007109.2 g.39129G>A|SEQ=[G/A]|GENE=MLH1 rs9461718 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31760045A>C NC_000006.12 g.31760045A>G NC_000006.11 g.31727822A>C NC_000006.11 g.31727822A>G NG_011611.1 g.25049A>C NG_011611.1 g.25049A>G NT_113891.3 g.3237302A>C NT_113891.3 g.3237302A>G NT_113891.2 g.3237408A>C NT_113891.2 g.3237408 rs9340978 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152012810G>A NC_000006.11 g.152333945G>A NG_008493.2 g.361120G>A|SEQ=[G/A]|GENE=ESR1 rs9340958 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152009538C>T NC_000006.11 g.152330673C>T NG_008493.2 g.357848C>T|SEQ=[C/T]|GENE=ESR1 rs7969759 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.67435923G>A NC_000012.11 g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812 rs7867029 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.78405502G>C NC_000009.11 g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083 rs7845127 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.18209886T>C NC_000008.10 g.18067395T>C NG_012245.2 g.44425T>C NM_001160179.3 c.-155T>C NM_001160179.2 c.-155T>C NM_001160179.1 c.-155T>C NM_001291962.2 c.-87T>C NM_001291962.1 c.-87T>C XM_017013947.1 c.-621T>C|SEQ=[T/C]|GENE=NAT1 rs7811989 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17331739A>C NC_000007.14 g.17331739A>G NC_000007.14 g.17331739A>T NC_000007.13 g.17371363A>C NC_000007.13 g.17371363A>G NC_000007.13 g.17371363A>T|SEQ=[A/C/G/T]|GENE=AHR rs7558708 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.73291739G>A NC_000002.11 g.73518867G>A NM_001965.4 c.1179C>T NM_001965.3 c.1488C>T|SEQ=[G/A]|GENE=EGR4 rs7226979 Strand: Allele origin: Allele change: Mutation type: snv NC_000018.10 g.63257737C>A NC_000018.10 g.63257737C>G NC_000018.10 g.63257737C>T NC_000018.9 g.60924970C>A NC_000018.9 g.60924970C>G NC_000018.9 g.60924970C>T NG_009361.1 g.66644G>T NG_009361.1 g.66644G>C NG_009361.1 g.66644G>A|SEQ=[C/A/G/T]|GENE=BCL rs7174015 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50424871G>A NC_000015.10 g.50424871G>T NC_000015.9 g.50717068G>A NC_000015.9 g.50717068G>T NG_047101.1 g.5495G>A NG_047101.1 g.5495G>T|SEQ=[G/A/T]|GENE=USP8 rs7104156 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.66871781T>A NC_000011.9 g.66639252T>A NG_008319.1 g.91596A>T NM_000920.4 c.227A>T NM_000920.3 c.227A>T NM_022172.3 c.227A>T NM_022172.2 c.227A>T NM_001040716.2 c.227A>T NM_001040716.1 c.227A>T XM_005274031.4 c.227A>T XM_005274031.1 c.2 rs7004637 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.42392929A>G NC_000008.10 g.42250447A>G|SEQ=[A/G]|GENE=VDAC3 DKK4 27121 rs6960165 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17328461G>A NC_000007.14 g.17328461G>C NC_000007.14 g.17328461G>T NC_000007.13 g.17368085G>A NC_000007.13 g.17368085G>C NC_000007.13 g.17368085G>T|SEQ=[G/A/C/T]|GENE=AHR rs6563386 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.36202894C>A NC_000013.11 g.36202894C>G NC_000013.11 g.36202894C>T NC_000013.10 g.36777031C>A NC_000013.10 g.36777031C>G NC_000013.10 g.36777031C>T NG_033786.1 g.16722G>T NG_033786.1 g.16722G>C NG_033786.1 g.16722G>A|SEQ=[C/A/G/T]|GENE= rs6124715 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.45548848C>G NC_000020.11 g.45548848C>T NC_000020.10 g.44177487C>G NC_000020.10 g.44177487C>T|SEQ=[C/G/T]|GENE=EPPIN EPPIN-WFDC6 100526773 rs4647269 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.37016100C>T NC_000003.11 g.37057591C>T NG_007109.2 g.27751C>T|SEQ=[C/T]|GENE=MLH1 rs4471514 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.95273561C>A NC_000012.12 g.95273561C>T NC_000012.11 g.95667337C>A NC_000012.11 g.95667337C>T NG_028987.2 g.60816C>A NG_028987.2 g.60816C>T NG_028987.1 g.60816C>A NG_028987.1 g.60816C>T|SEQ=[C/A/T]|GENE=VEZT rs4045481 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.1096837G>A NC_000004.11 g.1090625G>A NG_027812.2 g.21958C>T NG_027812.1 g.21728C>T NM_001131034.4 c.174C>T NM_001131034.3 c.174C>T NM_194439.4 c.174C>T NM_001193318.3 c.174C>T NM_001193318.2 c.174C>T NR_159501.1 n.486C>T NR_159498.1 n. rs3817444 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.55509814A>C NC_000004.12 g.55509814A>G NC_000004.11 g.56375981A>C NC_000004.11 g.56375981A>G|SEQ=[A/C/G]|GENE=CLOCK rs3816183 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.42788579T>C NC_000002.11 g.43015719T>C XM_005264230.4 c.109A>G XM_005264230.1 c.109A>G XM_011532730.3 c.7A>G XM_011532729.3 c.109A>G XM_011532731.3 c.109A>G NM_012205.3 c.109A>G NM_012205.2 c.109A>G XM_017003717.2 c.7A>G XM_024452774.1 rs3749474 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.55434518C>T NC_000004.11 g.56300685C>T NM_004898.4 c.*897G>A NM_004898.3 c.*897G>A XM_011534409.2 c.*897G>A XM_005265787.2 c.*897G>A XM_005265787.1 c.*897G>A XM_011534410.2 c.*897G>A XM_011534411.2 c.*897G>A NM_001267843.1 c.*897G>A XM rs3216733 Strand: Allele origin: Allele change: Mutation type: delins NC_000009.12 g.125241516_125241517del NC_000009.12 g.125241517del NC_000009.12 g.125241517dup NC_000009.12 g.125241516_125241517dup NC_000009.11 g.128003795_128003796del NC_000009.11 g.128003796del NC_000009.11 g.128003796dup NC_000009.11 g.128003795 rs3117572 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31749915A>C NC_000006.12 g.31749915A>G NC_000006.11 g.31717692A>C NC_000006.11 g.31717692A>G NG_011611.1 g.14919A>C NG_011611.1 g.14919A>G NT_113891.3 g.3227176G>A NT_113891.3 g.3227176G>C NT_113891.2 g.3227282G>A NT_113891.2 g.3227282 rs3115672 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31760120C>T NC_000006.11 g.31727897C>T NG_011611.1 g.25124C>T NM_025259.5 c.1767C>T NM_002441.4 c.1716C>T NM_172165.3 c.1716C>T NM_172166.3 c.1716C>T NT_113891.3 g.3237377T>C NT_113891.2 g.3237483T>C NT_167245.2 g.3007894C>T NT_167245. rs3000811 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.227400755G>A NC_000001.11 g.227400755G>C NC_000001.10 g.227588456G>A NC_000001.10 g.227588456G>C|SEQ=[G/A/C]|GENE=LINC01641 rs2774276 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.161041926G>A NC_000001.11 g.161041926G>C NC_000001.10 g.161011716G>A NC_000001.10 g.161011716G>C NG_011612.1 g.9042C>T NG_011612.1 g.9042C>G|SEQ=[G/A/C]|GENE=USF1 rs2516838 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.161044580C>G NC_000001.10 g.161014370C>G NG_011612.1 g.6388G>C|SEQ=[C/G]|GENE=USF1 rs2424909 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.32774055T>C NC_000020.10 g.31361861T>C NG_007290.1 g.16671T>C|SEQ=[T/C]|GENE=DNMT3B rs2301365 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11281429G>T NC_000016.9 g.11375286G>T|SEQ=[G/T]|GENE=PRM1 LOC105371082 105371082 rs2299850 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31750258C>T NC_000006.11 g.31718035C>T NG_011611.1 g.15262C>T NT_113891.3 g.3227519C>T NT_113891.2 g.3227625C>T NT_167245.2 g.2998029C>T NT_167245.1 g.3003614C>T NT_167247.2 g.3092140C>T NT_167247.1 g.3097725C>T NT_167248.2 g.3006081C> rs2284922 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.37381257G>A NC_000006.11 g.37349033G>A NM_003958.4 c.1344G>A NM_003958.3 c.1344G>A XM_006715241.3 c.1254G>A XR_001743734.2 n.1641G>A XR_001743731.2 n.1558G>A NR_046399.1 n.1643G>A NR_046399.2 n.1632G>A XM_017011462.1 c.1173G>A|SEQ=[G/A rs2282885 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17305990A>G NC_000007.13 g.17345614A>G|SEQ=[A/G]|GENE=AHR rs2229294 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.73291405G>A NC_000002.11 g.73518533G>A NM_001965.4 c.*52C>T NM_001965.3 c.*52C>T|SEQ=[G/A]|GENE=EGR4 rs2227973 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.36575763A>G NC_000011.10 g.36575763A>T NC_000011.9 g.36597313A>G NC_000011.9 g.36597313A>T NG_007528.1 g.12751A>G NG_007528.1 g.12751A>T NM_000448.3 c.2459A>G NM_000448.3 c.2459A>T NM_000448.2 c.2459A>G NM_000448.2 c.2459A>T NP_000439. rs2227290 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.45547503G>C NC_000020.11 g.45547503G>T NC_000020.10 g.44176142G>C NC_000020.10 g.44176142G>T|SEQ=[G/C/T]|GENE=EPPIN EPPIN-WFDC6 100526773 rs2077647 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151807942T>A NC_000006.12 g.151807942T>C NC_000006.11 g.152129077T>A NC_000006.11 g.152129077T>C NG_008493.2 g.156252T>A NG_008493.2 g.156252T>C NM_000125.4 c.30T>A NM_000125.4 c.30T>C NM_000125.3 c.30T>A NM_000125.3 c.30T>C NM_0011227 rs2075789 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31740551C>T NC_000006.11 g.31708328C>T NG_011611.1 g.5555C>T NM_025259.5 c.85C>T NM_002441.4 c.85C>T NM_172166.4 c.85C>T NM_172166.3 c.85C>T NM_172165.3 c.85C>T NT_113891.3 g.3217831C>T NT_113891.2 g.3217937C>T NT_167245.2 g.2988317C>T rs2066853 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17339486G>A NC_000007.13 g.17379110G>A NM_001621.5 c.1661G>A NM_001621.4 c.1661G>A NP_001612.1 p.Arg554Lys|SEQ=[G/A]|GENE=AHR rs2057951 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.31334059A>G NC_000022.10 g.31730045A>G|SEQ=[A/G]|GENE=PATZ1 PIK3IP1-DT 101929760 rs1805388 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.108211243G>A NC_000013.10 g.108863591G>A NG_007396.1 g.9292C>T NM_002312.3 c.26C>T NM_001352599.2 c.26C>T NM_001352599.1 c.26C>T NM_001352598.2 c.26C>T NM_001352598.1 c.26C>T NM_001352600.2 c.26C>T NM_001352600.1 c.26C>T NM_001352601.2 rs1801260 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.55435202A>G NC_000004.11 g.56301369A>G NM_004898.4 c.*213T>C NM_004898.3 c.*213T>C XM_011534409.2 c.*213T>C XM_005265787.2 c.*213T>C XM_005265787.1 c.*213T>C XM_011534410.2 c.*213T>C XM_011534411.2 c.*213T>C NM_001267843.1 c.*213T>C XM rs1801018 Strand: Allele origin: Allele change: Mutation type: snv NC_000018.10 g.63318646T>C NC_000018.9 g.60985879T>C NG_009361.1 g.5735A>G NM_000633.2 c.21A>G NM_000657.2 c.21A>G XM_011526135.3 c.21A>G XR_935248.3 n.1414A>G XM_017025917.2 c.21A>G|SEQ=[T/C]|GENE=BCL2 rs1800477 Strand: Allele origin: Allele change: Mutation type: snv NC_000018.10 g.63318540C>T NC_000018.9 g.60985773C>T NG_009361.1 g.5841G>A NM_000633.2 c.127G>A NM_000657.2 c.127G>A XM_011526135.3 c.127G>A XR_935248.3 n.1520G>A XM_017025917.2 c.127G>A NP_000624.2 p.Ala43Thr NP_000648.2 p.Ala43Thr XP_011524437.1 p. rs1556259 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.161044859A>G NC_000001.11 g.161044859A>T NC_000001.10 g.161014649A>G NC_000001.10 g.161014649A>T NG_011612.1 g.6109T>C NG_011612.1 g.6109T>A|SEQ=[A/G/T]|GENE=USF1 rs1394205 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.49154446C>G NC_000002.12 g.49154446C>T NC_000002.11 g.49381585C>G NC_000002.11 g.49381585C>T NG_008146.1 g.5046G>C NG_008146.1 g.5046G>A NM_000145.4 c.-29G>C NM_000145.4 c.-29G>A NM_000145.3 c.-29G>C NM_000145.3 c.-29G>A NM_181446.3 c. rs1368677 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.8972798T>A NC_000009.11 g.8972798T>A NG_033963.1 g.1644926A>T|SEQ=[T/A]|GENE=PTPRD rs1328641 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.36170892C>T NC_000013.10 g.36745029C>T NG_033786.1 g.48724G>A|SEQ=[C/T]|GENE=SOHLH2 CCDC169-SOHLH2 100526761 rs1328626 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.36204635C>A NC_000013.10 g.36778772C>A NG_033786.1 g.14981G>T|SEQ=[C/A]|GENE=SOHLH2 CCDC169-SOHLH2 100526761 rs1129332 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.2404771C>T NC_000001.10 g.2336210C>T NG_016128.1 g.17997C>T NM_007033.5 c.*1647C>T NM_007033.4 c.*1647C>T NG_008342.1 g.12801G>A NM_002617.4 c.*995G>A NM_153818.2 c.*995G>A NM_001374426.1 c.*995G>A NM_001374427.1 c.*995G>A NM_001374425 rs937283 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.68808384A>G NC_000012.11 g.69202164A>G NG_016708.1 g.5194A>G NM_002392.5 c.-94A>G NM_001145339.2 c.-94A>G XM_006719400.4 c.-281A>G|SEQ=[A/G]|GENE=MDM2 rs852977 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.143307929A>G NC_000005.9 g.142687494A>G NG_009062.1 g.132584T>C|SEQ=[A/G]|GENE=NR3C1 rs769423 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.3092923C>T NC_000017.10 g.2996217C>T NM_002548.2 c.74G>A NP_002539.2 p.Arg25Gln|SEQ=[C/T]|GENE=OR1D2 rs757230 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.1102132A>G NC_000019.9 g.1102131A>G NG_050621.1 g.3207A>G|SEQ=[A/G]|GENE=GPX4 rs757229 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.1102115G>A NC_000019.10 g.1102115G>C NC_000019.10 g.1102115G>T NC_000019.9 g.1102114G>A NC_000019.9 g.1102114G>C NC_000019.9 g.1102114G>T NG_050621.1 g.3190G>A NG_050621.1 g.3190G>C NG_050621.1 g.3190G>T|SEQ=[G/A/C/T]|GENE=GPX4 rs737008 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11281009G>A NC_000016.10 g.11281009G>T NC_000016.9 g.11374866G>A NC_000016.9 g.11374866G>T NM_002761.3 c.139C>T NM_002761.3 c.139C>A NM_002761.2 c.139C>T NM_002761.2 c.139C>A NP_002752.1 p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1 LOC1053710 rs642321 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31400896T>A NC_000005.10 g.31400896T>C NC_000005.9 g.31401003T>A NC_000005.9 g.31401003T>C NG_051574.1 g.136280A>T NG_051574.1 g.136280A>G NM_013235.5 c.*536A>T NM_013235.5 c.*536A>G NM_013235.4 c.*536A>T NM_013235.4 c.*536A>G NM_00110 rs508485 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94621313C>T NC_000011.9 g.94354479C>T NM_152431.3 c.*321C>T NM_152431.2 c.*321C>T|SEQ=[C/T]|GENE=PIWIL4 LOC105369438 105369438 rs215702 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.32360046G>A NC_000007.13 g.32399658G>A NG_051183.1 g.73179C>T|SEQ=[G/A]|GENE=PDE1C rs195434 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.37392781T>C NC_000006.11 g.37360557T>C NM_003958.4 c.*2023T>C NM_003958.3 c.*2023T>C NM_183078.2 c.*1929T>C NM_183078.3 c.*1929T>C NR_046399.1 n.3780T>C NR_046399.2 n.3769T>C|SEQ=[T/C]|GENE=RNF8 rs195432 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.37390246A>C NC_000006.12 g.37390246A>G NC_000006.12 g.37390246A>T NC_000006.11 g.37358022A>C NC_000006.11 g.37358022A>G NC_000006.11 g.37358022A>T|SEQ=[A/C/G/T]|GENE=RNF8 rs173665 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.8302030G>A NC_000019.9 g.8366914G>A NG_028124.1 g.11327C>T|SEQ=[G/A]|GENE=CD320 rs104669 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.37386283A>T NC_000006.11 g.37354059A>T|SEQ=[A/T]|GENE=RNF8 rs12676 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.53823776A>C NC_000003.12 g.53823776A>T NC_000003.11 g.53857803A>C NC_000003.11 g.53857803A>T NG_028042.1 g.27618T>G NG_028042.1 g.27618T>A NM_018397.5 c.233T>G NM_018397.5 c.233T>A NM_018397.4 c.233T>G NM_018397.4 c.233T>A XM_006713251 rs12348 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.25677217T>C NC_000009.12 g.25677217T>G NC_000009.11 g.25677215T>C NC_000009.11 g.25677215T>G NG_012031.1 g.6642A>G NG_012031.1 g.6642A>C NM_001004125.2 c.*466A>G NM_001004125.2 c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1 rs10719 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31401340A>G NC_000005.10 g.31401340A>T NC_000005.9 g.31401447A>G NC_000005.9 g.31401447A>T NG_051574.1 g.135836T>C NG_051574.1 g.135836T>A NM_013235.5 c.*92T>C NM_013235.5 c.*92T>A NM_013235.4 c.*92T>C NM_013235.4 c.*92T>A NM_001100412 rs6773 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.42405639T>C NC_000008.10 g.42263157T>C NM_005662.7 c.*177T>C NM_005662.6 c.*177T>C NM_001135694.2 c.*177T>C XM_006716394.1 c.*177T>C|SEQ=[T/C]|GENE=VDAC3 rs6166 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48962782C>T NC_000002.11 g.49189921C>T NG_008146.1 g.196710G>A NM_000145.4 c.2039G>A NM_000145.3 c.2039G>A NM_181446.3 c.1961G>A NM_181446.2 c.1961G>A XM_011532736.2 c.1247G>A XM_011532734.2 c.1808G>A XM_011532733.2 c.2141G>A XM_011532 rs6165 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48963902C>A NC_000002.12 g.48963902C>G NC_000002.12 g.48963902C>T NC_000002.11 g.49191041C>A NC_000002.11 g.49191041C>G NC_000002.11 g.49191041C>T NG_008146.1 g.195590G>T NG_008146.1 g.195590G>C NG_008146.1 g.195590G>A NM_000145.4 c.91 rs7371084 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48712814T>C NC_000002.11 g.48939953T>C NG_033050.2 g.187890T>C NG_033050.1 g.187890T>C NG_008193.2 g.47928A>G NG_008193.1 g.47928A>G|SEQ=[T/C]|GENE=LHCGR STON1-GTF2A1L 286749 rs9397080 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152059380C>T NC_000006.11 g.152380515C>T NG_008493.2 g.407690C>T|SEQ=[C/T]|GENE=ESR1 rs3798577 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152099995T>C NC_000006.11 g.152421130T>C NG_008493.2 g.448305T>C NM_000125.4 c.*1029T>C NM_000125.3 c.*1029T>C NM_001122742.1 c.*1029T>C NM_001122740.1 c.*1029T>C NM_001291230.1 c.*1029T>C NM_001122741.1 c.*1029T>C NM_001291241.1 c.*10 rs2855658 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.38069747T>C NC_000002.11 g.38296890T>C NG_008386.2 g.11355A>G NM_000104.3 c.*975A>G|SEQ=[T/C]|GENE=CYP1B1 RMDN2 151393 rs700519 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.51215771G>A NC_000015.9 g.51507968G>A NG_007982.1 g.127828C>T NM_000103.4 c.790C>T NM_000103.3 c.790C>T NM_031226.3 c.790C>T NM_031226.2 c.790C>T NM_001347255.2 c.790C>T NM_001347255.1 c.790C>T NM_001347256.2 c.790C>T NM_001347256.1 c. rs25640 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.119475838G>A NC_000005.10 g.119475838G>C NC_000005.9 g.118811533G>A NC_000005.9 g.118811533G>C NG_008182.1 g.28386G>A NG_008182.1 g.28386G>C NM_000414.4 c.317G>A NM_000414.4 c.317G>C NM_000414.3 c.317G>A NM_000414.3 c.317G>C NM_0011992 rs11205 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.119526018A>G NC_000005.9 g.118861713A>G NG_008182.1 g.78566A>G NM_000414.4 c.1675A>G NM_000414.3 c.1675A>G NM_001199291.3 c.1750A>G NM_001199291.2 c.1750A>G NM_001199291.1 c.1750A>G NM_001292028.2 c.1255A>G NM_001292028.1 c.1255A>G NM_ rs28943594 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.119541965A>G NC_000005.9 g.118877660A>G NG_008182.1 g.94513A>G NM_000414.4 c.2182A>G NM_000414.3 c.2182A>G NM_001199291.3 c.2257A>G NM_001199291.2 c.2257A>G NM_001199291.1 c.2257A>G NM_001292028.2 c.1762A>G NM_001292028.1 c.1762A>G NM_ rs1643821 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151862416G>A NC_000006.11 g.152183551G>A NG_008493.2 g.210726G>A|SEQ=[G/A]|GENE=ESR1 rs11155819 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151878224T>C NC_000006.11 g.152199359T>C NG_008493.2 g.226534T>C|SEQ=[T/C]|GENE=ESR1 rs1884052 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151970231G>C NC_000006.12 g.151970231G>T NC_000006.11 g.152291366G>C NC_000006.11 g.152291366G>T NG_008493.2 g.318541G>C NG_008493.2 g.318541G>T|SEQ=[G/C/T]|GENE=ESR1 rs3020328 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151984370C>A NC_000006.12 g.151984370C>T NC_000006.11 g.152305505C>A NC_000006.11 g.152305505C>T NG_008493.2 g.332680C>A NG_008493.2 g.332680C>T|SEQ=[C/A/T]|GENE=ESR1 rs6905370 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152005062G>A NC_000006.11 g.152326197G>A NG_008493.2 g.353372G>A|SEQ=[G/A]|GENE=ESR1 rs13203975 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152011969G>A NC_000006.11 g.152333104G>A NG_008493.2 g.360279G>A|SEQ=[G/A]|GENE=ESR1 rs926779 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152034785G>A NC_000006.11 g.152355920G>A NG_008493.2 g.383095G>A|SEQ=[G/A]|GENE=ESR1 rs3020364 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152045983A>G NC_000006.12 g.152045983A>T NC_000006.11 g.152367118A>G NC_000006.11 g.152367118A>T NG_008493.2 g.394293A>G NG_008493.2 g.394293A>T|SEQ=[A/G/T]|GENE=ESR1 rs3020371 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152062685C>A NC_000006.12 g.152062685C>T NC_000006.11 g.152383820C>A NC_000006.11 g.152383820C>T NG_008493.2 g.410995C>A NG_008493.2 g.410995C>T|SEQ=[C/A/T]|GENE=ESR1 rs3020375 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152068833A>C NC_000006.12 g.152068833A>T NC_000006.11 g.152389968A>C NC_000006.11 g.152389968A>T NG_008493.2 g.417143A>C NG_008493.2 g.417143A>T|SEQ=[A/C/T]|GENE=ESR1 rs2228480 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152098960G>A NC_000006.11 g.152420095G>A NG_008493.2 g.447270G>A NM_000125.4 c.1782G>A NM_000125.3 c.1782G>A NM_001122742.1 c.1782G>A NM_001122740.1 c.1782G>A NM_001291230.1 c.1788G>A NM_001122741.1 c.1782G>A NM_001291241.1 c.1779G>A X rs2070565 Strand: Allele origin: Allele change: Mutation type: snv NC_000021.9 g.44261270T>C NC_000021.8 g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L rs2276248 Strand: Allele origin: Allele change: Mutation type: snv NC_000021.9 g.44259375T>C NC_000021.8 g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L rs7354779 Strand: Allele origin: Allele change: Mutation type: snv NC_000021.9 g.44250887T>C NC_000021.8 g.45670770T>C NM_013369.3 c.832A>G NM_013369.4 c.832A>G NM_175867.2 c.832A>G NM_175867.3 c.832A>G NR_135514.1 n.75T>C NP_037501.2 p.Arg278Gly NP_787063.1 p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L DNMT3L-AS1 1053728 rs16959755 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.58168185T>A NC_000016.10 g.58168185T>C NC_000016.9 g.58202089T>A NC_000016.9 g.58202089T>C|SEQ=[T/A/C]|GENE=CSNK2A2 rs2242444 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.58165766C>T NC_000016.9 g.58199670C>T|SEQ=[C/T]|GENE=CSNK2A2 rs2242445 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.58165299G>A NC_000016.10 g.58165299G>T NC_000016.9 g.58199203G>A NC_000016.9 g.58199203G>T|SEQ=[G/A/T]|GENE=CSNK2A2 rs12920268 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.79433215G>A NC_000016.9 g.79467112G>A|SEQ=[G/A]|GENE=MAF rs2032278 Strand: Allele origin: Allele change: Mutation type: snv NC_000018.10 g.77572081A>G NC_000018.10 g.77572081A>T NC_000018.9 g.75284037A>G NC_000018.9 g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172 rs1801085 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.27128971A>G NC_000007.13 g.27168590A>G NM_002141.4 c.*254T>C NM_002141.5 c.*254T>C|SEQ=[A/G]|GENE=HOXA3 HOXA4 3201 HOXA-AS2 285943 rs7811653 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.46362671C>A NC_000007.13 g.46402269C>A|SEQ=[C/A] rs16937456 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.71165720A>G NC_000008.11 g.71165720A>T NC_000008.10 g.72077955A>G NC_000008.10 g.72077955A>T|SEQ=[A/G/T]|GENE=LOC105375894 rs10762738 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.76935709A>G NC_000010.10 g.78695467A>G NG_012270.1 g.707111T>C|SEQ=[A/G]|GENE=KCNMA1 KCNMA1-AS1 101929328 rs143136847 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.82354560T>C NC_000012.12 g.82354560T>G NC_000012.11 g.82748339T>C NC_000012.11 g.82748339T>G NG_053173.1 g.1155T>C NG_053173.1 g.1155T>G NG_053173.2 g.1155T>C NG_053173.2 g.1155T>G NM_014167.5 c.499A>G NM_014167.5 c.499A>C NM_014167.4 rs369191560 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48982976C>A NC_000002.12 g.48982976C>T NC_000002.11 g.49210115C>A NC_000002.11 g.49210115C>T NG_008146.1 g.176516G>T NG_008146.1 g.176516G>A NM_000145.4 c.604G>T NM_000145.4 c.604G>A NM_000145.3 c.604G>T NM_000145.3 c.604G>A NM_181446. rs147685926 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48963865T>C NC_000002.11 g.49191004T>C NG_008146.1 g.195627A>G NM_000145.4 c.956A>G NM_000145.3 c.956A>G NM_181446.3 c.878A>G NM_181446.2 c.878A>G XM_011532736.2 c.164A>G XM_011532734.2 c.725A>G XM_011532733.2 c.1058A>G XM_011532735.2 rs36065902 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.41841870A>T NW_003571052.1 g.128512A>T NG_051246.1 g.11186A>T NM_152467.5 c.242A>T NM_152467.4 c.242A>T NM_152467.3 c.242A>T NM_001329596.2 c.-23A>T NM_001329596.1 c.-23A>T NM_001329595.1 c.242A>T NC_000017.10 g.39998122A>T NP_689680.2 rs61752339 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.41845328T>C NW_003571052.1 g.131970T>C NG_051246.1 g.14644T>C NM_152467.5 c.887T>C NM_152467.4 c.887T>C NM_152467.3 c.887T>C NM_001329596.2 c.623T>C NM_001329596.1 c.623T>C NM_001329595.1 c.887T>C NC_000017.10 g.40001580T>C NP_689680.2 rs79170274 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.119030036T>A NC_000010.11 g.119030036T>C NC_000010.10 g.120789548T>A NC_000010.10 g.120789548T>C NG_050764.1 g.5321T>A NG_050764.1 g.5321T>C NM_199461.4 c.235T>A NM_199461.4 c.235T>C NM_199461.3 c.235T>A NM_199461.3 c.235T>C NM_199461. rs1801133 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.11796321G>A NC_000001.11 g.11796321G>C NC_000001.10 g.11856378G>A NC_000001.10 g.11856378G>C NG_013351.1 g.14783C>T NG_013351.1 g.14783C>G NM_005957.5 c.665C>T NM_005957.5 c.665C>G NM_005957.4 c.665C>T NM_005957.4 c.665C>G NM_001330358 rs1727130 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.100213841C>A NC_000007.14 g.100213841C>G NC_000007.14 g.100213841C>T NC_000007.13 g.99811464C>A NC_000007.13 g.99811464C>G NC_000007.13 g.99811464C>T NG_034114.1 g.41118C>A NG_034114.1 g.41118C>G NG_034114.1 g.41118C>T|SEQ=[C/A/G/T]|GE rs2656927 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.4908263C>T NC_000019.9 g.4908275C>T NG_033256.2 g.10184C>T|SEQ=[C/T]|GENE=UHRF1 ARRDC5 645432 rs8103849 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.4909617C>G NC_000019.9 g.4909629C>G NG_033256.2 g.11538C>G NM_001048201.3 c.-49C>G NM_001048201.2 c.-49C>G NM_001048201.1 c.-49C>G XM_011527942.2 c.-49C>G|SEQ=[C/G]|GENE=UHRF1 ARRDC5 645432 rs1052133 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.9757089C>G NC_000003.12 g.9757089C>T NC_000003.11 g.9798773C>G NC_000003.11 g.9798773C>T NG_012106.1 g.12146C>G NG_012106.1 g.12146C>T NM_002542.5 c.977C>G NM_002542.5 c.977C>T NM_016819.3 c.*246C>G NM_016819.3 c.*246C>T NM_016820.3 c. rs68073206 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48721568A>C NC_000002.11 g.48948707A>C NG_033050.2 g.196644A>C NG_033050.1 g.196644A>C NG_008193.2 g.39174T>G NG_008193.1 g.39174T>G|SEQ=[A/C]|GENE=LHCGR STON1-GTF2A1L 286749 rs4539842 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48755625A>T NC_000002.11 g.48982764A>T NG_033050.2 g.230701A>T NG_033050.1 g.230701A>T NG_008193.2 g.5117T>A NG_008193.1 g.5117T>A NM_000233.4 c.47T>A NM_000233.3 c.47T>A NP_000224.2 p.Leu16Gln|SEQ=[A/T]|GENE=LHCGR STON1-GTF2A1L 2 rs12470652 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48694299T>C NC_000002.11 g.48921438T>C NG_033050.2 g.169375T>C NG_033050.1 g.169375T>C NG_008193.2 g.66443A>G NG_008193.1 g.66443A>G NM_000233.4 c.872A>G NM_000233.3 c.872A>G XM_005264309.3 c.-69A>G XM_017004089.1 c.617A>G XM_017004090 rs2293275 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48694236T>C NC_000002.12 g.48694236T>G NC_000002.11 g.48921375T>C NC_000002.11 g.48921375T>G NG_033050.2 g.169312T>C NG_033050.2 g.169312T>G NG_033050.1 g.169312T>C NG_033050.1 g.169312T>G NG_008193.2 g.66506A>G NG_008193.2 g.66506A>C rs10249788 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17298523C>G NC_000007.14 g.17298523C>T NC_000007.13 g.17338147C>G NC_000007.13 g.17338147C>T XR_927073.2 n.16G>C XR_927073.2 n.16G>A|SEQ=[C/G/T]|GENE=AHR LOC101927609 101927609 rs5000770 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.80424141G>A NC_000015.9 g.80716483G>A|SEQ=[G/A]|GENE=ARNT2 rs3757824 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17296411T>C NC_000007.14 g.17296411T>G NC_000007.13 g.17336035T>C NC_000007.13 g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609 rs11091748 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50414986A>C NC_000023.11 g.50414986A>G NC_000023.11 g.50414986A>T NW_004070877.1 g.128101A>C NW_004070877.1 g.128101A>G NW_004070877.1 g.128101A>T NG_033143.2 g.60737T>G NG_033143.2 g.60737T>C NG_033143.2 g.60737T>A NC_000023.10 g.5015 rs12171755 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50436751C>G NC_000023.11 g.50436751C>T NW_004070877.1 g.149866C>G NW_004070877.1 g.149866C>T NG_033143.2 g.38972G>C NG_033143.2 g.38972G>A NC_000023.10 g.50179749C>G NC_000023.10 g.50179749C>T|SEQ=[C/G/T]|GENE=DGKK rs4143304 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50403572C>T NW_004070877.1 g.116687C>T NG_033143.2 g.72151G>A NM_001013742.4 c.1104G>A NM_001013742.3 c.1104G>A NM_001013742.2 c.1104G>A NC_000023.10 g.50146570C>T XM_017029268.2 c.1104G>A|SEQ=[C/T]|GENE=DGKK rs17328236 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50425211A>C NC_000023.11 g.50425211A>G NW_004070877.1 g.138326A>C NW_004070877.1 g.138326A>G NG_033143.2 g.50512T>G NG_033143.2 g.50512T>C NC_000023.10 g.50168209A>C NC_000023.10 g.50168209A>G|SEQ=[A/C/G]|GENE=DGKK rs1934179 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50439186G>A NW_004070877.1 g.152301G>A NG_033143.2 g.36537C>T NC_000023.10 g.50182184G>A|SEQ=[G/A]|GENE=DGKK rs4554617 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50460404A>C NW_004070877.1 g.173519A>C NG_033143.2 g.15319T>G NC_000023.10 g.50203402A>C|SEQ=[A/C]|GENE=DGKK rs1934183 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50438016A>C NW_004070877.1 g.151131A>C NG_033143.2 g.37707T>G NC_000023.10 g.50181014A>C|SEQ=[A/C]|GENE=DGKK rs6080550 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.1778944C>G NC_000020.11 g.1778944C>T NC_000020.10 g.1759590C>G NC_000020.10 g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473 rs2211122 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50459752T>C NW_004070877.1 g.172867T>C NG_033143.2 g.15971A>G NC_000023.10 g.50202750T>C|SEQ=[T/C]|GENE=DGKK rs498422 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.32318984T>G NC_000006.11 g.32286761T>G NT_113891.3 g.3757457T>G NT_113891.2 g.3757563T>G NT_167248.2 g.3542362G>T NT_167248.1 g.3547958G>T NT_167245.2 g.3560446T>G NT_167245.1 g.3566031T>G NT_167249.2 g.3635248T>G NT_167249.1 g.3634546 rs200847762 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.32129371G>A NC_000006.11 g.32097148G>A NG_033940.1 g.3870C>T NT_113891.3 g.3567702G>A NT_113891.2 g.3567808G>A NT_167247.2 g.3471391G>A NT_167247.1 g.3476976G>A NT_167245.2 g.3370735G>A NT_167245.1 g.3376320G>A NM_022110.4 c.410C>T NM_ rs9969978 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50425307G>C NW_004070877.1 g.138422G>C NG_033143.2 g.50416C>G NC_000023.10 g.50168305G>C|SEQ=[G/C]|GENE=DGKK rs1934188 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50406247G>A NC_000023.11 g.50406247G>C NW_004070877.1 g.119362G>A NW_004070877.1 g.119362G>C NG_033143.2 g.69476C>T NG_033143.2 g.69476C>G NC_000023.10 g.50149245G>A NC_000023.10 g.50149245G>C|SEQ=[G/A/C]|GENE=DGKK rs4826632 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50454263G>T NW_004070877.1 g.167378G>T NG_033143.2 g.21460C>A NC_000023.10 g.50197261G>T|SEQ=[G/T]|GENE=DGKK rs4599945 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50380968G>A NC_000023.11 g.50380968G>T NW_004070877.1 g.94083G>A NW_004070877.1 g.94083G>T NG_033143.2 g.94755C>T NG_033143.2 g.94755C>A NC_000023.10 g.50123966G>A NC_000023.10 g.50123966G>T|SEQ=[G/A/T]|GENE=DGKK rs11614913 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.53991815C>T NC_000012.11 g.54385599C>T NR_029617.1 n.78C>T|SEQ=[C/T]|GENE=MIR196A2 rs4938723 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.111511840T>C NC_000011.9 g.111382565T>C|SEQ=[T/C]|GENE=BTG4 MIR34B 407041 MIR34C 407042 LOC728196 728196 rs696 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.35401887C>G NC_000014.9 g.35401887C>T NC_000014.8 g.35871093C>G NC_000014.8 g.35871093C>T NG_007571.1 g.7852G>C NG_007571.1 g.7852G>A NM_020529.3 c.*126G>C NM_020529.3 c.*126G>A NM_020529.2 c.*126G>C NM_020529.2 c.*126G>A|SEQ=[C/G/T]|GE rs1801394 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.7870860A>G NC_000005.9 g.7870973A>G NG_008856.1 g.6757A>G NM_024010.4 c.66A>G NM_024010.3 c.66A>G NM_024010.2 c.147A>G NM_002454.3 c.66A>G NM_002454.2 c.66A>G NM_001364440.2 c.66A>G NM_001364440.1 c.66A>G NM_001364441.2 c.66A>G NM_0013 rs1877031 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.39657827G>A NC_000017.10 g.37814080G>A NM_006804.4 c.350G>A NM_006804.3 c.350G>A XM_017024041.2 c.350G>A NM_001165937.1 c.350G>A XM_024450549.1 c.-418G>A NM_001165938.1 c.350G>A NP_006795.3 p.Arg117Gln XP_016879530.1 p.Arg117Gln NP_001 rs13447352 Strand: Allele origin: Allele change: Mutation type: snv NC_000024.10 g.20587967A>C NC_000024.9 g.22749853A>C|SEQ=[A/C]|GENE=EIF1AY rs1800734 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.36993455G>A NC_000003.12 g.36993455G>C NC_000003.11 g.37034946G>A NC_000003.11 g.37034946G>C NG_007109.2 g.5106G>A NG_007109.2 g.5106G>C NM_000249.3 c.-93G>A NM_000249.3 c.-93G>C NM_001258274.2 c.-1188G>A NM_001258274.2 c.-1188G>C NM_0 rs1106042 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.130357093G>A NC_000012.11 g.130841638G>A NT_187589.1 g.34018G>A NM_004764.4 c.1580G>A NM_004764.5 c.1580G>A XM_011539004.3 c.1580G>A XM_011539002.3 c.1580G>A XM_011539003.3 c.1580G>A XM_011539006.3 c.440G>A XM_011539005.1 c.1580G>A XM_ rs6525433 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.70853309T>C NC_000023.10 g.70073159T>C NG_012574.2 g.60409A>G NG_012574.1 g.60409A>G NM_031276.3 c.344A>G NM_031276.2 c.344A>G NM_001003811.2 c.389A>G NM_001003811.1 c.389A>G XM_011530994.1 c.344A>G XM_017029649.1 c.344A>G NP_112566.2 rs4844247 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.70670451C>T NC_000023.10 g.69890301C>T NG_012574.2 g.243267G>A NG_012574.1 g.243267G>A NM_031276.3 c.1306G>A NM_031276.2 c.1306G>A NM_001003811.2 c.1351G>A NM_001003811.1 c.1351G>A XM_017029652.2 c.115G>A XM_011530994.1 c.1306G>A XM_01 rs2292596 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.422840C>G NC_000005.10 g.422840C>T NC_000005.9 g.422955C>G NC_000005.9 g.422955C>T NG_029834.2 g.123665C>G NG_029834.2 g.123665C>T NG_029834.1 g.123665C>G NG_029834.1 g.123665C>T NM_020731.4 c.565C>G NM_020731.4 c.565C>T NM_001242412.1 rs3779456 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.27174938T>C NC_000007.13 g.27214557T>C|SEQ=[T/C]|GENE=HOXA10 HOXA10-HOXA9 100534589 rs35033974 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.43416460G>T NC_000019.9 g.43920612G>T NM_031451.4 c.350G>T XM_005259303.3 c.464G>T XM_005259303.1 c.392G>T NM_001130011.1 c.296G>T NM_001130011.3 c.296G>T NM_001130011.2 c.296G>T NP_113639.4 p.Gly117Val XP_005259360.2 p.Gly155Val NP_00 rs6932902 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152055389G>A NC_000006.11 g.152376524G>A NG_008493.2 g.403699G>A|SEQ=[G/A]|GENE=ESR1 rs1801132 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151944387G>A NC_000006.12 g.151944387G>C NC_000006.12 g.151944387G>T NC_000006.11 g.152265522G>A NC_000006.11 g.152265522G>C NC_000006.11 g.152265522G>T NG_008493.2 g.292697C>G NG_008493.2 g.292697C>A NG_008493.2 g.292697C>T NM_000125. rs605059 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.42554888G>A NC_000017.11 g.42554888G>C NC_000017.11 g.42554888G>T NC_000017.10 g.40706906G>A NC_000017.10 g.40706906G>C NC_000017.10 g.40706906G>T NM_000413.3 c.937G>A NM_000413.3 c.937G>C NM_000413.3 c.937G>T NM_000413.4 c.937G>A NM_0 rs3814309 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.109734781T>C NC_000001.10 g.110277403T>C NM_000849.4 c.*2290A>G NM_000849.5 c.*2290A>G NR_024537.1 n.3202A>G|SEQ=[T/C]|GENE=GSTM3 rs1571858 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.109737292C>A NC_000001.11 g.109737292C>G NC_000001.11 g.109737292C>T NC_000001.10 g.110279914C>A NC_000001.10 g.110279914C>G NC_000001.10 g.110279914C>T|SEQ=[C/A/G/T]|GENE=GSTM3 rs72609647 Strand: Allele origin: Allele change: Mutation type: snv NC_000024.10 g.12678428T>G NC_000024.9 g.14790357T>G|SEQ=[T/G]|GENE=TTTY15 rs2207396 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.152061247G>A NC_000006.11 g.152382382G>A NG_008493.2 g.409557G>A|SEQ=[G/A]|GENE=ESR1 rs2234693 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151842200T>C NC_000006.12 g.151842200T>G NC_000006.11 g.152163335T>C NC_000006.11 g.152163335T>G NG_008493.2 g.190510T>C NG_008493.2 g.190510T>G|SEQ=[T/C/G]|GENE=ESR1 rs9340799 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.151842246A>G NC_000006.11 g.152163381A>G NG_008493.2 g.190556A>G|SEQ=[A/G]|GENE=ESR1 rs1800682 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.88990206A>G NC_000010.10 g.90749963A>G NG_009089.2 g.4676A>G NG_011541.1 g.6185T>C|SEQ=[A/G]|GENE=ACTA2 FAS 355 rs3212293 Strand: Allele origin: Allele change: Mutation type: snv NC_000024.10 g.13479612C>G NC_000024.10 g.13479612C>T NC_000024.9 g.15591492C>G NC_000024.9 g.15591492C>T NM_007125.4 c.54G>C NM_007125.4 c.54G>A XM_006724875.4 c.54G>C XM_006724875.4 c.54G>A XM_005262518.4 c.54G>C XM_005262518.4 c.54G>A XM_005262518 rs11932595 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.55457430A>G NC_000004.12 g.55457430A>T NC_000004.11 g.56323597A>G NC_000004.11 g.56323597A>T|SEQ=[A/G/T]|GENE=CLOCK rs6811520 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.55449011T>C NC_000004.11 g.56315178T>C|SEQ=[T/C]|GENE=CLOCK TMEM165 55858 rs6850524 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.55515830C>A NC_000004.12 g.55515830C>G NC_000004.12 g.55515830C>T NC_000004.11 g.56381997C>A NC_000004.11 g.56381997C>G NC_000004.11 g.56381997C>T|SEQ=[C/A/G/T]|GENE=CLOCK rs1799964 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31574531T>C NC_000006.11 g.31542308T>C NG_007462.1 g.3959T>C NG_012010.1 g.7433T>C NT_113891.3 g.3051818T>C NT_113891.2 g.3051924T>C NT_167246.2 g.2879572T>C NT_167246.1 g.2885192T>C NT_167249.2 g.2873811T>C NT_167249.1 g.2873109T>C NT rs1799724 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31574705C>T NC_000006.11 g.31542482C>T NG_007462.1 g.4133C>T NG_012010.1 g.7607C>T NT_113891.3 g.3051992C>T NT_113891.2 g.3052098C>T NT_167246.2 g.2879746C>T NT_167246.1 g.2885366C>T NT_167249.2 g.2873985C>T NT_167249.1 g.2873283C>T NT rs4597581 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48731456A>G NC_000002.11 g.48958595A>G NG_033050.2 g.206532A>G NG_033050.1 g.206532A>G NG_008193.2 g.29286T>C NG_008193.1 g.29286T>C|SEQ=[A/G]|GENE=LHCGR STON1-GTF2A1L 286749 rs4953617 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.48726070C>G NC_000002.12 g.48726070C>T NC_000002.11 g.48953209C>G NC_000002.11 g.48953209C>T NG_033050.2 g.201146C>G NG_033050.2 g.201146C>T NG_033050.1 g.201146C>G NG_033050.1 g.201146C>T NG_008193.2 g.34672G>C NG_008193.2 g.34672G>A rs1020397 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.80426396G>A NC_000015.10 g.80426396G>C NC_000015.10 g.80426396G>T NC_000015.9 g.80718738G>A NC_000015.9 g.80718738G>C NC_000015.9 g.80718738G>T|SEQ=[G/A/C/T]|GENE=ARNT2 rs5335 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.147542688G>A NC_000004.12 g.147542688G>C NC_000004.11 g.148463840G>A NC_000004.11 g.148463840G>C NG_013343.1 g.66772G>A NG_013343.1 g.66772G>C NM_001957.4 c.*70G>A NM_001957.4 c.*70G>C NM_001957.3 c.*70G>A NM_001957.3 c.*70G>C NR_04595 rs1801708 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.147481217G>A NC_000004.12 g.147481217G>C NC_000004.11 g.148402369G>A NC_000004.11 g.148402369G>C NG_013343.1 g.5301G>A NG_013343.1 g.5301G>C NM_001957.4 c.-230G>A NM_001957.4 c.-230G>C NM_001957.3 c.-230G>A NM_001957.3 c.-230G>C NR_045 rs1059060 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.5977709T>A NC_000007.14 g.5977709T>C NC_000007.13 g.6017340T>A NC_000007.13 g.6017340T>C NG_008466.1 g.36398A>T NG_008466.1 g.36398A>G NM_000535.7 c.2324A>T NM_000535.7 c.2324A>G NM_000535.6 c.2324A>T NM_000535.6 c.2324A>G NM_000535.5 rs1476080 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17318249T>A NC_000007.14 g.17318249T>G NC_000007.13 g.17357873T>A NC_000007.13 g.17357873T>G|SEQ=[T/A/G]|GENE=AHR rs2291109 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31532322A>G NC_000005.10 g.31532322A>T NC_000005.9 g.31532429A>G NC_000005.9 g.31532429A>T NG_051574.1 g.4854T>C NG_051574.1 g.4854T>A NM_018356.3 c.-71A>G NM_018356.3 c.-71A>T NM_018356.2 c.-71A>G NM_018356.2 c.-71A>T XM_011514062.3 c rs17409893 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31532682A>G NC_000005.9 g.31532789A>G NG_051574.1 g.4494T>C|SEQ=[A/G]|GENE=DROSHA C5orf22 55322 rs1422627 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.45913480C>G NC_000019.10 g.45913480C>T NC_000019.9 g.46416738C>G NC_000019.9 g.46416738C>T NM_001029861.2 c.*797G>C NM_001029861.2 c.*797G>A NM_001029861.3 c.*797G>C NM_001029861.3 c.*797G>A|SEQ=[C/G/T]|GENE=NANOS2 rs9304651 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.45916515A>G NC_000019.9 g.46419773A>G|SEQ=[A/G]|GENE=NANOS2 rs2015728 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.45915628G>A NC_000019.10 g.45915628G>T NC_000019.9 g.46418886G>A NC_000019.9 g.46418886G>T|SEQ=[G/A/T]|GENE=NANOS2 rs180113 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.69928988T>C NC_000017.10 g.67925129T>C|SEQ=[T/C] rs2241769 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50424436G>A NC_000015.10 g.50424436G>C NC_000015.9 g.50716633G>A NC_000015.9 g.50716633G>C NG_047101.1 g.5060G>A NG_047101.1 g.5060G>C NM_001128610.2 c.-284G>A NM_001128610.2 c.-284G>C NM_001128610.3 c.-284G>A NM_001128610.3 c.-284G>C rs11857513 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50497226G>A NC_000015.10 g.50497226G>C NC_000015.9 g.50789423G>A NC_000015.9 g.50789423G>C NG_047101.1 g.77850G>A NG_047101.1 g.77850G>C NM_001128610.2 c.3033G>A NM_001128610.2 c.3033G>C NM_001128610.3 c.3033G>A NM_001128610.3 c.3033G> rs3743044 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50481590A>G NC_000015.9 g.50773787A>G NG_047101.1 g.62214A>G NM_001128610.2 c.1328A>G NM_001128610.3 c.1328A>G NM_001128610.1 c.1328A>G NM_005154.5 c.1328A>G NM_005154.4 c.1328A>G NM_005154.3 c.1328A>G XM_006720761.3 c.1328A>G XM_00672 rs7110167 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94587071T>C NC_000011.9 g.94320237T>C NM_152431.3 c.738T>C NM_152431.2 c.738T>C|SEQ=[T/C]|GENE=PIWIL4 LOC105369438 105369438 rs57607909 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94593599G>C NC_000011.9 g.94326765G>C NM_152431.3 c.1108G>C NM_152431.2 c.1108G>C NP_689644.2 p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4 LOC105369438 105369438 rs593690 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94604054C>A NC_000011.10 g.94604054C>T NC_000011.9 g.94337220C>A NC_000011.9 g.94337220C>T NM_152431.3 c.1636C>A NM_152431.3 c.1636C>T NM_152431.2 c.1636C>A NM_152431.2 c.1636C>T NP_689644.2 p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4 L rs4934540 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.35185771T>A NC_000010.11 g.35185771T>C NC_000010.10 g.35474699T>A NC_000010.10 g.35474699T>C NG_029065.1 g.63899T>A NG_029065.1 g.63899T>C|SEQ=[T/A/C]|GENE=CREM rs2295415 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.35212510A>G NC_000010.10 g.35501438A>G NG_029065.1 g.90638A>G NM_183013.3 c.*1112A>G NM_183013.2 c.*1112A>G NM_181571.3 c.*707A>G NM_181571.2 c.*707A>G NM_182769.3 c.*707A>G NM_182769.2 c.*707A>G NM_182770.3 c.*707A>G NM_182770.2 c.*70 rs10506398 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.59717545A>C NC_000012.12 g.59717545A>G NC_000012.11 g.60111326A>C NC_000012.11 g.60111326A>G|SEQ=[A/C/G]|GENE=SLC16A7 rs10506399 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.59780712G>A NC_000012.12 g.59780712G>C NC_000012.11 g.60174493G>A NC_000012.11 g.60174493G>C NM_004731.4 c.*1033G>A NM_004731.4 c.*1033G>C NM_004731.5 c.*1033G>A NM_004731.5 c.*1033G>C XM_005269231.4 c.*1033G>A XM_005269231.4 c.*1033G> rs553509 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.104013293T>C NW_004070885.1 g.149709T>C NG_016406.2 g.5396A>G NM_001002916.4 c.368A>G NC_000023.10 g.103267865C>T NP_001002916.3 p.His123Arg|SEQ=[T/C]|GENE=H2BW1 rs7885967 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.104013669G>A NW_004070885.1 g.150085G>A NG_016406.2 g.5020C>T NM_001002916.4 c.-9C>T NC_000023.10 g.103268241G>A|SEQ=[G/A]|GENE=H2BW1 rs141722381 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.154959281T>A NC_000001.10 g.154931757T>A NM_138300.4 c.719A>T NM_138300.3 c.719A>T NP_612157.1 p.Asn240Ile|SEQ=[T/A]|GENE=PYGO2 rs4506565 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.112996282A>G NC_000010.11 g.112996282A>T NC_000010.10 g.114756041A>G NC_000010.10 g.114756041A>T NG_012631.1 g.51033A>G NG_012631.1 g.51033A>T|SEQ=[A/G/T]|GENE=TCF7L2 rs7903146 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.112998590C>G NC_000010.11 g.112998590C>T NC_000010.10 g.114758349C>G NC_000010.10 g.114758349C>T NG_012631.1 g.53341C>G NG_012631.1 g.53341C>T NG_054085.1 g.746C>G NG_054085.1 g.746C>T|SEQ=[C/G/T]|GENE=TCF7L2 rs12243326 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.113029056T>C NC_000010.10 g.114788815T>C NG_012631.1 g.83807T>C|SEQ=[T/C]|GENE=TCF7L2 rs12255372 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.113049143G>A NC_000010.11 g.113049143G>T NC_000010.10 g.114808902G>A NC_000010.10 g.114808902G>T NG_012631.1 g.103894G>A NG_012631.1 g.103894G>T|SEQ=[G/A/T]|GENE=TCF7L2 rs6836703 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.76108994G>A NC_000004.11 g.77030147G>A|SEQ=[G/A]|GENE=ART3 rs4588110 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.1102140A>C NC_000019.10 g.1102140A>G NC_000019.10 g.1102140A>T NC_000019.9 g.1102139A>C NC_000019.9 g.1102139A>G NC_000019.9 g.1102139A>T NG_050621.1 g.3215A>C NG_050621.1 g.3215A>G NG_050621.1 g.3215A>T|SEQ=[A/C/G/T]|GENE=GPX4 rs3746165 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.1102212A>G NC_000019.10 g.1102212A>T NC_000019.9 g.1102211A>G NC_000019.9 g.1102211A>T NG_050621.1 g.3287A>G NG_050621.1 g.3287A>T|SEQ=[A/G/T]|GENE=GPX4 rs3746166 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.1102176C>T NC_000019.9 g.1102175C>T NG_050621.1 g.3251C>T|SEQ=[C/T]|GENE=GPX4 rs771189047 Strand: Allele origin: Allele change: Mutation type: delins NC_000002.12 g.73293568dup NC_000002.11 g.73520696dup|SEQ=[-/C]|GENE=EGR4 rs561568849 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.73293413G>A NC_000002.12 g.73293413G>T NC_000002.11 g.73520541G>A NC_000002.11 g.73520541G>T NM_001965.4 c.-96C>T NM_001965.4 c.-96C>A NM_001965.3 c.214C>T NM_001965.3 c.214C>A|SEQ=[G/A/T]|GENE=EGR4 rs763487015 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.73293391G>A NC_000002.11 g.73520519G>A NM_001965.4 c.-74C>T NM_001965.3 c.236C>T|SEQ=[G/A]|GENE=EGR4 rs546250227 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.73291933C>A NC_000002.11 g.73519061C>A NM_001965.4 c.985G>T NM_001965.3 c.1294G>T NP_001956.4 p.Val329Leu|SEQ=[C/A]|GENE=EGR4 rs115948271 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.73292360G>C NC_000002.11 g.73519488G>C NM_001965.4 c.558C>G NM_001965.3 c.867C>G|SEQ=[G/C]|GENE=EGR4 rs528939702 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.73291997C>T NC_000002.11 g.73519125C>T NM_001965.4 c.921G>A NM_001965.3 c.1230G>A|SEQ=[C/T]|GENE=EGR4 rs144944885 Strand: Allele origin: Allele change: Mutation type: delins NC_000022.11 g.50776483del NC_000022.10 g.51214911del NW_004070876.1 g.11558del|SEQ=[G/-]|GENE=RABL2B RPL23AP82 284942 rs34349826 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.49016626A>G NC_000019.9 g.49519883A>G NG_033041.1 g.27728A>G NG_011464.1 g.5465T>C NM_000894.3 c.104T>C NM_000894.2 c.104T>C NP_000885.1 p.Ile35Thr|SEQ=[A/G]|GENE=LHB rs6521 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.49016616G>A NC_000019.10 g.49016616G>C NC_000019.10 g.49016616G>T NC_000019.9 g.49519873G>A NC_000019.9 g.49519873G>C NC_000019.9 g.49519873G>T NG_033041.1 g.27718G>A NG_033041.1 g.27718G>C NG_033041.1 g.27718G>T NG_011464.1 g.5475C>T rs761250416 Strand: Allele origin: Allele change: Mutation type: delins NC_000014.9 g.45159190dup NC_000014.8 g.45628393dup NG_007417.1 g.28258dup NM_020937.4 c.1491dup NM_020937.3 c.1491dup NM_020937.2 c.1491dup NM_001308133.2 c.1413dup NM_001308133.1 c.1413dup NM_001308134.1 c.1491dup XM_011537035.3 c.1413dup XM_011537 rs144567652 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.45198718C>A NC_000014.9 g.45198718C>T NC_000014.8 g.45667921C>A NC_000014.8 g.45667921C>T NG_007417.1 g.67786C>A NG_007417.1 g.67786C>T NM_020937.4 c.5791C>A NM_020937.4 c.5791C>T NM_020937.3 c.5791C>A NM_020937.3 c.5791C>T NM_020937.2 rs9661103 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.91870349T>A NC_000001.11 g.91870349T>C NC_000001.10 g.92335906T>A NC_000001.10 g.92335906T>C NG_027757.1 g.40654A>T NG_027757.1 g.40654A>G|SEQ=[T/A/C]|GENE=TGFBR3 rs17576372 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.91900617T>C NC_000001.10 g.92366174T>C NG_027757.1 g.10386A>G|SEQ=[T/C]|GENE=TGFBR3 rs4074319 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50376189G>A NW_004070877.1 g.89304G>A NG_033143.2 g.99534C>T NC_000023.10 g.50119188G>A|SEQ=[G/A]|GENE=DGKK rs7879090 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50376928A>G NW_004070877.1 g.90043A>G NG_033143.2 g.98795T>C NC_000023.10 g.50119927A>G|SEQ=[A/G]|GENE=DGKK rs5961179 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50386371A>G NW_004070877.1 g.99486A>G NG_033143.2 g.89352T>C NM_001013742.4 c.2334T>C NM_001013742.3 c.2334T>C NM_001013742.2 c.2334T>C NC_000023.10 g.50129369A>G XM_017029268.2 c.2334T>C|SEQ=[A/G]|GENE=DGKK rs7882950 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50386957C>T NW_004070877.1 g.100072C>T NG_033143.2 g.88766G>A NC_000023.10 g.50129955C>T|SEQ=[C/T]|GENE=DGKK rs12556919 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50388166A>G NC_000023.11 g.50388166A>T NW_004070877.1 g.101281A>G NW_004070877.1 g.101281A>T NG_033143.2 g.87557T>C NG_033143.2 g.87557T>A NC_000023.10 g.50131164A>G NC_000023.10 g.50131164A>T|SEQ=[A/G/T]|GENE=DGKK rs12012084 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50390683A>C NC_000023.11 g.50390683A>G NW_004070877.1 g.103798A>C NW_004070877.1 g.103798A>G NG_033143.2 g.85040T>G NG_033143.2 g.85040T>C NC_000023.10 g.50133681A>C NC_000023.10 g.50133681A>G|SEQ=[A/C/G]|GENE=DGKK rs17003341 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50391813C>T NW_004070877.1 g.104928C>T NG_033143.2 g.83910G>A NC_000023.10 g.50134811C>T|SEQ=[C/T]|GENE=DGKK rs1320573 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50397981C>T NW_004070877.1 g.111096C>T NG_033143.2 g.77742G>A NC_000023.10 g.50140979C>T|SEQ=[C/T]|GENE=DGKK rs17003346 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50400511A>G NW_004070877.1 g.113626A>G NG_033143.2 g.75212T>C NC_000023.10 g.50143509A>G|SEQ=[A/G]|GENE=DGKK rs1934190 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50400967G>A NC_000023.11 g.50400967G>C NC_000023.11 g.50400967G>T NW_004070877.1 g.114082G>A NW_004070877.1 g.114082G>C NW_004070877.1 g.114082G>T NG_033143.2 g.74756C>T NG_033143.2 g.74756C>G NG_033143.2 g.74756C>A NC_000023.10 g.5014 rs17003348 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50415123T>C NW_004070877.1 g.128238T>C NG_033143.2 g.60600A>G NC_000023.10 g.50158121T>C|SEQ=[T/C]|GENE=DGKK rs7888440 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50415792G>C NW_004070877.1 g.128907G>C NG_033143.2 g.59931C>G NC_000023.10 g.50158790G>C|SEQ=[G/C]|GENE=DGKK rs7877459 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50417673C>G NW_004070877.1 g.130788C>G NG_033143.2 g.58050G>C NC_000023.10 g.50160671C>G|SEQ=[C/G]|GENE=DGKK rs5961182 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50432873C>A NC_000023.11 g.50432873C>G NC_000023.11 g.50432873C>T NW_004070877.1 g.145988C>A NW_004070877.1 g.145988C>G NW_004070877.1 g.145988C>T NG_033143.2 g.42850G>T NG_033143.2 g.42850G>C NG_033143.2 g.42850G>A NC_000023.10 g.5017 rs1934170 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50439853G>A NC_000023.11 g.50439853G>C NW_004070877.1 g.152968G>A NW_004070877.1 g.152968G>C NG_033143.2 g.35870C>T NG_033143.2 g.35870C>G NC_000023.10 g.50182851G>A NC_000023.10 g.50182851G>C|SEQ=[G/A/C]|GENE=DGKK rs6614511 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50456494A>T NW_004070877.1 g.169609A>T NG_033143.2 g.19229T>A NC_000023.10 g.50199492A>T|SEQ=[A/T]|GENE=DGKK rs1934184 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50462117C>A NC_000023.11 g.50462117C>T NW_004070877.1 g.175232C>A NW_004070877.1 g.175232C>T NG_033143.2 g.13606G>T NG_033143.2 g.13606G>A NC_000023.10 g.50205115C>A NC_000023.10 g.50205115C>T|SEQ=[C/A/T]|GENE=DGKK rs5961183 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50462757T>C NW_004070877.1 g.175872T>C NG_033143.2 g.12966A>G NC_000023.10 g.50205755T>C|SEQ=[T/C]|GENE=DGKK rs7876567 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.50468742C>T NW_004070877.1 g.181857C>T NG_033143.2 g.6981G>A NC_000023.10 g.50211741C>T|SEQ=[C/T]|GENE=DGKK rs2976084 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.75456899G>A NC_000003.12 g.75456899G>T NC_000003.11 g.75506050G>A NC_000003.11 g.75506050G>T NG_025593.1 g.34405C>T NG_025593.1 g.34405C>A NR_151706.1 n.721G>A NR_151706.1 n.721G>T|SEQ=[G/A/T]|GENE=LINC02018 rs2290870 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.42574403T>C NC_000004.11 g.42576420T>C|SEQ=[T/C]|GENE=ATP8A1 rs1237691411 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.101737863A>G NC_000012.11 g.102131641A>G NG_021181.1 g.6607T>C NM_153694.4 c.73T>C NM_001177949.2 c.73T>C NM_001177949.1 c.73T>C NM_001177948.1 c.73T>C XM_005268922.5 c.313T>C XM_005268922.1 c.313T>C XM_005268926.4 c.73T>C XM_005268926 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Protein Summary |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Protein general information | P18440 Name: Arylamine N acetyltransferase 1 (EC 2.3.1.5) (Arylamide acetylase 1) (Monomorphic arylamine N acetyltransferase) (MNAT) (N acetyltransferase type 1) (NAT 1) Length: 290 Mass: 33899 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sequence |
MDIEAYLERIGYKKSRNKLDLETLTDILQHQIRAVPFENLNIHCGDAMDLGLEAIFDQVVRRNRGGWCLQVNHLL YWALTTIGFETTMLGGYVYSTPAKKYSTGMIHLLLQVTIDGRNYIVDAGFGRSYQMWQPLELISGKDQPQVPCVF RLTEENGFWYLDQIRREQYIPNEEFLHSDLLEDSKYRKIYSFTLKPRTIEDFESMNTYLQTSPSSVFTSKSFCSL QTPDGVHCLVGFTLTHRRFNYKDNTDLIEFKTLSEEEIEKVLKNIFNISLQRKLVPKHGDRFFTI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural information |
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other Databases | GeneCards: NAT1 Malacards: NAT1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene ontology
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
KEGG pathways
Expand All | Collapse All |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diseases
Expand All | Collapse All |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PubMed references
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||