Search Result
Gene id | 3 | ||||||||||||||||
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Gene Summary SNPs Protein Summary Gene ontology Diseases PubMed | |||||||||||||||||
Gene Summary |
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Gene Symbol | A2MP1 Gene UCSC Ensembl | ||||||||||||||||
Aliases | A2MP | ||||||||||||||||
Gene name | alpha-2-macroglobulin pseudogene 1 | ||||||||||||||||
Alternate names | pregnancy-zone protein pseudogene, | ||||||||||||||||
Gene location |
12p13.31 (9234206: 9228532) Exons: 2 NC_000012.12 |
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SNPs |
rs886041025 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.32985782G>C NC_000020.10 g.31573588G>C NG_054760.1 g.23668C>G NM_080675.4 c.851C>G NM_080675.3 c.851C>G XM_011528573.1 c.920C>G XM_011528574.1 c.776C>G XM_011528575.1 c.581C>G NP_542406.2 p.Ser284Ter XP_011526875.1 p.Ser307Ter XP_01152 rs886041024 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.32985852C>T NC_000020.10 g.31573658C>T NG_054760.1 g.23598G>A NM_080675.4 c.781G>A NM_080675.3 c.781G>A XM_011528573.1 c.850G>A XM_011528574.1 c.706G>A XM_011528575.1 c.511G>A NP_542406.2 p.Val261Met XP_011526875.1 p.Val284Met XP_01152 rs886041023 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.32995668A>G NC_000020.11 g.32995668A>T NC_000020.10 g.31583474A>G NC_000020.10 g.31583474A>T NG_054760.1 g.13782T>C NG_054760.1 g.13782T>A NM_080675.4 c.485T>C NM_080675.4 c.485T>A NM_080675.3 c.485T>C NM_080675.3 c.485T>A XM_011528573 rs886039789 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.43615851C>G NC_000005.10 g.43615851C>T NC_000005.9 g.43615953C>G NC_000005.9 g.43615953C>T NG_032869.1 g.18163C>G NG_032869.1 g.18163C>T NM_182977.3 c.385C>G NM_182977.3 c.385C>T NM_182977.2 c.385C>G NM_182977.2 c.385C>T NM_012343.3 c. 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 rs868256749 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.63617303C>T NC_000012.11 g.64011083C>T NG_031909.1 g.56272G>A|SEQ=[C/T]|GENE=DPY19L2 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 rs781693813 Strand: Allele origin: Allele change: Mutation type: delins NC_000020.11 g.32997649del NC_000020.10 g.31585455del NG_054760.1 g.11803del NM_080675.4 c.381del NM_080675.3 c.381del XM_011528573.1 c.450del XM_011528574.1 c.306del XM_011528575.1 c.111del XM_011528576.1 c.450del NP_542406.2 p.Val128fs XP_011526875 rs775700619 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.73951138G>A NC_000011.10 g.73951138G>C NC_000011.9 g.73662183G>A NC_000011.9 g.73662183G>C NG_053111.1 g.5820G>A NG_053111.1 g.5820G>C|SEQ=[G/A/C]|GENE=DNAJB13 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 rs756459525 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.32985809G>A NC_000020.10 g.31573615G>A NG_054760.1 g.23641C>T NM_080675.4 c.824C>T NM_080675.3 c.824C>T XM_011528573.1 c.893C>T XM_011528574.1 c.749C>T XM_011528575.1 c.554C>T NP_542406.2 p.Thr275Met XP_011526875.1 p.Thr298Met XP_01152 rs754776389 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.73969996T>C NC_000011.10 g.73969996T>G NC_000011.9 g.73681041T>C NC_000011.9 g.73681041T>G NG_053111.1 g.24678T>C NG_053111.1 g.24678T>G NM_153614.3 c.833T>C NM_153614.3 c.833T>G NM_153614.2 c.833T>C NM_153614.2 c.833T>G XM_011545004.3 rs754130052 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.32983868G>A NC_000020.10 g.31571674G>A NG_054760.1 g.25582C>T NM_080675.4 c.1066C>T NM_080675.3 c.1066C>T XM_011528573.1 c.1135C>T XM_011528574.1 c.991C>T XM_011528575.1 c.796C>T NP_542406.2 p.Arg356Cys XP_011526875.1 p.Arg379Cys XP_01 rs751879424 Strand: Allele origin: Allele change: Mutation type: del NC_000012.12 g.63617339del NC_000012.11 g.64011119del NG_031909.1 g.56236del NM_173812.4 c.1183del NM_173812.5 c.1183del XM_011538218.3 c.172del XR_001748666.2 n.1335del XM_006719352.2 c.754del XM_017019192.2 c.1033del XM_017019203.2 c.238del XM_0170 rs606231461 Strand: Allele origin: Allele change: Mutation type: delins NC_000015.10 g.51481268_51481282del NC_000015.9 g.51773465_51773479del NG_017155.1 g.146492_146506del NM_015263.3 c.5827_5841del NM_015263.4 c.5827_5841del NM_001174116.1 c.5827_5841del NM_001174116.2 c.5827_5841del NM_001174117.1 c.3919_3933del NM_0 rs587777206 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.63624101G>A NC_000012.11 g.64017881G>A NG_031909.1 g.49474C>T NM_173812.4 c.892C>T NM_173812.5 c.892C>T XR_001748666.2 n.1044C>T XM_006719352.2 c.463C>T XM_017019193.2 c.589C>T XM_011538215.2 c.379C>T XR_002957317.1 n.1044C>T XR_002957 rs587777205 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.63569312T>A NC_000012.12 g.63569312T>G NC_000012.11 g.63963092T>A NC_000012.11 g.63963092T>G NG_031909.1 g.104263A>T NG_031909.1 g.104263A>C NM_173812.4 c.2038A>T NM_173812.4 c.2038A>C NM_173812.5 c.2038A>T NM_173812.5 c.2038A>C XM_011 rs587777160 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.440344C>T NC_000020.10 g.420988C>T NG_034082.1 g.27210G>A NM_144628.3 c.672G>A NM_144628.4 c.672G>A NM_144628.2 c.672G>A NR_111901.1 n.820G>A XM_006723540.3 c.486G>A XM_005260661.1 c.672G>A XM_017027645.1 c.486G>A NP_653229.1 p.Trp224T rs587777159 Strand: Allele origin: Allele change: Mutation type: delins NC_000020.11 g.442029_442030del NC_000020.10 g.422673_422674del NG_034082.1 g.25525_25526del NM_144628.3 c.352_353del NM_144628.4 c.352_353del NM_144628.2 c.352_353del NR_111901.1 n.500_501del XM_006723540.3 c.166_167del XM_005260661.1 c.352_353del X rs587777158 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.445095G>A NC_000020.10 g.425739G>A NG_034082.1 g.22459C>T NM_144628.3 c.292C>T NM_144628.4 c.292C>T NM_144628.2 c.292C>T NR_111901.1 n.440C>T XM_006723540.3 c.106C>T XM_005260661.1 c.292C>T XM_017027645.1 c.106C>T NP_653229.1 p.Gln98Te rs587777157 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.447946G>A NC_000020.10 g.428590G>A NG_034082.1 g.19608C>T NM_144628.3 c.199C>T NM_144628.4 c.199C>T NM_144628.2 c.199C>T NR_111901.1 n.347C>T XM_005260661.1 c.199C>T NP_653229.1 p.Arg67Ter XP_005260718.1 p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D rs587777044 Strand: Allele origin: Allele change: Mutation type: delins NC_000003.12 g.50343331dup NC_000003.11 g.50380762dup NG_023270.1 g.2606dup NG_042828.1 g.7416dup NM_015896.4 c.486dup NM_015896.3 c.486dup NM_015896.2 c.486dup NM_001308379.2 c.486dup NM_001308379.1 c.486dup XM_005265216.3 c.249dup XM_005265216.1 c. rs587777043 Strand: Allele origin: Allele change: Mutation type: delins NC_000003.12 g.50343753del NC_000003.11 g.50381184del NG_023270.1 g.2185del NG_042828.1 g.6995del NM_015896.4 c.300del NM_015896.3 c.300del NM_015896.2 c.300del NM_001308379.2 c.300del NM_001308379.1 c.300del XM_005265216.3 c.63del XM_005265216.1 c.6 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 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 rs397515460 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.50342047G>A NC_000003.11 g.50379478G>A NG_023270.1 g.3890C>T NG_042828.1 g.8700C>T NM_015896.4 c.967C>T NM_015896.3 c.967C>T NM_015896.2 c.967C>T NM_001308379.2 c.952C>T NM_001308379.1 c.952C>T XM_005265216.3 c.730C>T XM_005265216.1 c. 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 rs397515393 Strand: Allele origin: Allele change: Mutation type: del NC_000017.11 g.80039966del NC_000017.10 g.78013765del NG_029761.1 g.8335del NM_017950.4 c.248del NM_017950.3 c.248del NM_001330508.2 c.248del NM_001330508.1 c.248del NM_001243342.1 c.248del XM_011524963.3 c.158del XM_011524965.3 c.248del XR_934495.2 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 rs397515339 Strand: Allele origin: Allele change: Mutation type: delins NC_000016.10 g.84170177dup NC_000016.9 g.84203783dup NG_021174.1 g.29919dup NM_178452.6 c.1349dup NM_178452.5 c.1349dup NM_178452.4 c.1349dup NM_001318756.1 c.641dup XM_011522854.3 c.1397dup XM_006721129.3 c.1349dup XM_011522853.3 c.1397dup XM_011522 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 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 rs387907021 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.73689432A>G NC_000014.8 g.74156135A>G NG_028083.2 g.49558A>G NG_028083.1 g.49558A>G NM_031427.4 c.449A>G NM_031427.3 c.449A>G NM_001201366.1 c.332A>G NM_001201366.2 c.332A>G XM_017021679.2 c.332A>G XM_024449715.1 c.332A>G NP_113615.2 p. rs267607227 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.84154748T>C NC_000016.10 g.84154748T>G NC_000016.9 g.84188353T>C NC_000016.9 g.84188353T>G NG_021174.1 g.14489T>C NG_021174.1 g.14489T>G NM_178452.6 c.524T>C NM_178452.6 c.524T>G NM_178452.5 c.524T>C NM_178452.5 c.524T>G NM_178452.4 c. rs267607225 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.84159744C>T NC_000016.9 g.84193349C>T NG_021174.1 g.19485C>T NM_178452.6 c.811C>T NM_178452.5 c.811C>T NM_178452.4 c.811C>T NM_001318756.1 c.55C>T XM_011522854.3 c.811C>T XM_006721129.3 c.811C>T XM_011522853.3 c.811C>T XM_011522855.3 c rs202094637 Strand: Allele origin: Allele change: Mutation type: snv NC_000021.9 g.32602299G>A NC_000021.9 g.32602299G>C NC_000021.8 g.33974609G>A NC_000021.8 g.33974609G>C NG_033839.2 g.15310C>T NG_033839.2 g.15310C>G NM_021254.4 c.735C>T NM_021254.4 c.735C>G NM_021254.3 c.735C>T NM_021254.3 c.735C>G NM_021254.2 c.73 rs200913791 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.50342473A>G NC_000003.11 g.50379904A>G NG_023270.1 g.3464T>C NG_042828.1 g.8274T>C NM_015896.4 c.797T>C NM_015896.3 c.797T>C NM_015896.2 c.797T>C NM_001308379.2 c.782T>C NM_001308379.1 c.782T>C XM_005265216.3 c.560T>C XM_005265216.1 c. 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 rs147579680 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.63624124C>T NC_000012.11 g.64017904C>T NG_031909.1 g.49451G>A NM_173812.4 c.869G>A NM_173812.5 c.869G>A XR_001748666.2 n.1021G>A XM_006719352.2 c.440G>A XM_017019193.2 c.566G>A XM_011538215.2 c.356G>A XR_002957317.1 n.1021G>A XR_002957 rs143740376 Strand: Allele origin: Allele change: Mutation type: snv NC_000021.9 g.32609853G>A NC_000021.8 g.33982163G>A NG_033839.2 g.7756C>T NM_021254.4 c.292C>T NM_021254.3 c.292C>T NM_021254.2 c.292C>T NM_001350334.2 c.63C>T NM_001350334.1 c.63C>T NM_001350336.2 c.292C>T NM_001350336.1 c.292C>T NM_001350337.2 c.29 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 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. rs138815960 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.50345533A>C NC_000003.11 g.50382964A>C NG_023270.1 g.404T>G NG_042828.1 g.5214T>G NM_015896.4 c.47T>G NM_015896.3 c.47T>G NM_015896.2 c.47T>G NM_001308379.2 c.47T>G NM_001308379.1 c.47T>G XM_005265216.3 c.-82T>G XM_005265216.1 c.-82T>G rs121918300 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.37888306T>A NC_000007.14 g.37888306T>C NC_000007.13 g.37927908T>A NC_000007.13 g.37927908T>C NG_015893.1 g.44710T>A NG_015893.1 g.44710T>C NM_016616.4 c.1277T>A NM_016616.4 c.1277T>C NM_016616.5 c.1277T>A NM_016616.5 c.1277T>C NP_05770 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 rs117149381 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.37862001C>T NC_000007.13 g.37901603C>T NG_015893.1 g.18405C>T|SEQ=[C/T]|GENE=NME8 rs61752561 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50858126G>A NC_000019.9 g.51361382G>A NG_011653.1 g.8212G>A NM_001648.2 c.304G>A NM_001030047.1 c.304G>A NP_001639.1 p.Asp102Asn NP_001025218.1 p.Asp102Asn|SEQ=[G/A]|GENE=KLK3 rs61736309 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50860022G>A NC_000019.10 g.50860022G>T NC_000019.9 g.51363278G>A NC_000019.9 g.51363278G>T NG_011653.1 g.10108G>A NG_011653.1 g.10108G>T NM_001648.2 c.681G>A NM_001648.2 c.681G>T NM_001030047.1 c.*406G>A NM_001030047.1 c.*406G>T NM_001 rs45588133 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50859699G>A NC_000019.9 g.51362955G>A NG_011653.1 g.9785G>A NM_001030047.1 c.*83G>A|SEQ=[G/A]|GENE=KLK3 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 rs35192866 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50859547C>T NC_000019.9 g.51362803C>T NG_011653.1 g.9633C>T NM_001030047.1 c.648C>T|SEQ=[C/T]|GENE=KLK3 rs28368082 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.57335452C>T NC_000020.10 g.55910508C>T XM_005260382.4 c.631C>T XM_005260382.1 c.631C>T XM_005260379.3 c.631C>T XM_005260379.1 c.631C>T XM_005260380.3 c.631C>T XM_005260380.1 c.631C>T XM_005260381.3 c.631C>T XM_005260381.1 c.631C>T NM_0 rs28368064 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.57330052G>A NC_000020.11 g.57330052G>T NC_000020.10 g.55905108G>A NC_000020.10 g.55905108G>T|SEQ=[G/A/T]|GENE=SPO11 LOC105372687 105372687 rs28368062 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.57329973A>C NC_000020.11 g.57329973A>G NC_000020.11 g.57329973A>T NC_000020.10 g.55905029A>C NC_000020.10 g.55905029A>G NC_000020.10 g.55905029A>T XM_005260382.4 c.106A>C XM_005260382.4 c.106A>G XM_005260382.4 c.106A>T XM_005260382.1 c 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 rs17632542 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50858501T>C NC_000019.9 g.51361757T>C NG_011653.1 g.8587T>C NM_001648.2 c.536T>C NM_001030047.1 c.536T>C NM_001030048.1 c.407T>C NP_001639.1 p.Ile179Thr NP_001025218.1 p.Ile179Thr NP_001025219.1 p.Ile136Thr|SEQ=[T/C]|GENE=KLK3 rs17088625 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.22790337T>C NC_000008.10 g.22647850T>C|SEQ=[T/C]|GENE=PEBP4 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 rs16895863 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.42603608A>T NC_000006.11 g.42571346A>T XM_005248966.3 c.-1554A>T XR_001743284.2 n.1051A>T XM_011514438.2 c.633A>T NM_015255.2 c.552A>T XM_017010595.1 c.633A>T XM_017010596.1 c.552A>T NM_001363705.1 c.552A>T XM_017010594.1 c.633A>T XR_0 rs12339229 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.28093234C>T NC_000009.11 g.28093232C>T|SEQ=[C/T]|GENE=LINGO2 rs12323635 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.95159374C>T NC_000014.8 g.95625711C>T NG_016311.1 g.3049G>A|SEQ=[C/T]|GENE=DICER1 DICER1-AS1 400242 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> rs11531577 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.100180604G>T NC_000007.13 g.99778227G>T NG_034114.1 g.7881G>T NM_012447.4 c.48G>T NM_012447.3 c.48G>T NM_012447.2 c.48G>T NM_001282718.2 c.48G>T NM_001282718.1 c.48G>T NM_001282717.1 c.48G>T NM_001282716.1 c.48G>T XM_017011683.2 c.48G> rs11467497 Strand: Allele origin: Allele change: Mutation type: delins NC_000020.11 g.145515_145518CAAA[1] NC_000020.10 g.126156_126159CAAA[1] NM_030931.4 c.159_162CAAA[1] NM_030931.3 c.159_162CAAA[1] NP_112193.1 p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126 rs11204546 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.247896410T>A NC_000001.11 g.247896410T>C NC_000001.11 g.247896410T>G NC_000001.10 g.248059712T>A NC_000001.10 g.248059712T>C NC_000001.10 g.248059712T>G NG_053132.1 g.5824T>A NG_053132.1 g.5824T>C NG_053132.1 g.5824T>G NM_001001957.2 c 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 rs10459953 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.27800492C>A NC_000017.11 g.27800492C>G NC_000017.11 g.27800492C>T NC_000017.10 g.26127518C>A NC_000017.10 g.26127518C>G NC_000017.10 g.26127518C>T NG_011470.1 g.5038G>T NG_011470.1 g.5038G>C NG_011470.1 g.5038G>A NM_000625.4 c.-227G>T 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 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 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 rs7156586 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75039527A>T NC_000014.8 g.75506230A>T NG_008649.1 g.17006T>A|SEQ=[A/T]|GENE=MLH3 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= rs6476866 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.4459274G>A NC_000009.12 g.4459274G>C NC_000009.11 g.4459274G>A NC_000009.11 g.4459274G>C|SEQ=[G/A/C] rs6103330 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.43458814T>A NC_000020.11 g.43458814T>C NC_000020.11 g.43458814T>G NC_000020.10 g.42087454T>A NC_000020.10 g.42087454T>C NC_000020.10 g.42087454T>G NG_029906.1 g.5951T>A NG_029906.1 g.5951T>C NG_029906.1 g.5951T>G|SEQ=[T/A/C/G]|GENE=SRS rs4997052 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31356367T>A NC_000006.12 g.31356367T>G NC_000006.11 g.31324144T>A NC_000006.11 g.31324144T>G NG_023187.1 g.5846A>T NG_023187.1 g.5846A>C NM_005514.8 c.419A>T NM_005514.8 c.419A>C NM_005514.7 c.419A>T NM_005514.7 c.419A>C NM_005514.6 c. rs3918242 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.46007337C>T NC_000020.10 g.44635976C>T NG_011468.1 g.3430C>T|SEQ=[C/T]|GENE=MMP9 rs3917158 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75978126T>A NC_000014.9 g.75978126T>C NC_000014.9 g.75978126T>G NC_000014.8 g.76444469T>A NC_000014.8 g.76444469T>C NC_000014.8 g.76444469T>G NG_011715.1 g.8624A>T NG_011715.1 g.8624A>G NG_011715.1 g.8624A>C|SEQ=[T/A/C/G]|GENE=TGFB3 rs3819392 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.54660528G>A NC_000004.11 g.55526694G>A NG_007456.1 g.7534G>A|SEQ=[G/A]|GENE=KIT 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 rs3749897 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.42564364C>G NC_000006.12 g.42564364C>T NC_000006.11 g.42532102C>G NC_000006.11 g.42532102C>T XR_001743284.2 n.410C>G XR_001743284.2 n.410C>T XM_011514438.2 c.-9C>G XM_011514438.2 c.-9C>T NM_015255.2 c.45C>G NM_015255.2 c.45C>T XM_01701 rs3741843 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.10938833C>A NC_000012.12 g.10938833C>G NC_000012.12 g.10938833C>T NC_000012.11 g.11091432C>A NC_000012.11 g.11091432C>G NC_000012.11 g.11091432C>T NT_187658.1 g.137539C>A NT_187658.1 g.137539C>G NT_187658.1 g.137539C>T NW_003571050.1 g rs3736832 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.57333213A>G NC_000020.10 g.55908269A>G XM_005260382.4 c.271A>G XM_005260382.1 c.271A>G XM_005260379.3 c.271A>G XM_005260379.1 c.271A>G XM_005260380.3 c.271A>G XM_005260380.1 c.271A>G XM_005260381.3 c.271A>G XM_005260381.1 c.271A>G NM_0 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 rs3129878 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.32440958A>C NC_000006.11 g.32408735A>C NT_113891.3 g.3879082C>A NT_113891.2 g.3879188C>A NG_002392.2 g.5293C>A NT_167248.2 g.3664005A>C NT_167248.1 g.3669601A>C NT_167245.2 g.3681261A>C NT_167245.1 g.3686846A>C NT_167249.2 g.3756099A>C 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 rs2664155 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50873774G>A NC_000019.9 g.51377030G>A NG_031984.1 g.5342G>A|SEQ=[G/A]|GENE=KLK2 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 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> rs2298090 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.26156845A>G NC_000006.11 g.26157073A>G NM_005321.2 c.455A>G NM_005321.3 c.455A>G NP_005312.1 p.Lys152Arg|SEQ=[A/G]|GENE=H1-4 H2BC5 3017 rs2287498 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.7689242C>T NC_000017.10 g.7592560C>T NG_017013.2 g.3309G>A NG_028245.1 g.8172C>T NM_018081.2 c.450C>T NM_001143991.2 c.450C>T NM_001143991.1 c.450C>T NM_001143992.2 c.450C>T NM_001143992.1 c.450C>T NM_001143990.1 c.450C>T XR_001752551. rs2284792 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75977236G>A NC_000014.9 g.75977236G>C NC_000014.9 g.75977236G>T NC_000014.8 g.76443579G>A NC_000014.8 g.76443579G>C NC_000014.8 g.76443579G>T NG_011715.1 g.9514C>T NG_011715.1 g.9514C>G NG_011715.1 g.9514C>A|SEQ=[G/A/C/T]|GENE=TGFB3 rs2268626 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75978424C>G NC_000014.9 g.75978424C>T NC_000014.8 g.76444767C>G NC_000014.8 g.76444767C>T NG_011715.1 g.8326G>C NG_011715.1 g.8326G>A|SEQ=[C/G/T]|GENE=TGFB3 rs2268625 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75973291C>G NC_000014.9 g.75973291C>T NC_000014.8 g.76439634C>G NC_000014.8 g.76439634C>T NG_011715.1 g.13459G>C NG_011715.1 g.13459G>A|SEQ=[C/G/T]|GENE=TGFB3 rs2231829 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.45547937G>A NC_000020.10 g.44176576G>A|SEQ=[G/A]|GENE=EPPIN EPPIN-WFDC6 100526773 rs2231599 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.86574546A>G NC_000001.10 g.87040229A>G NM_012128.4 c.1474A>G NM_012128.3 c.1474A>G XM_011541015.2 c.1321A>G NR_024602.1 n.1409A>G NR_024602.2 n.1407A>G NP_036260.2 p.Ser492Gly XP_011539317.1 p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4 CLCA4 rs2227956 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31810495G>A NC_000006.12 g.31810495G>C NC_000006.12 g.31810495G>T NC_000006.11 g.31778272G>A NC_000006.11 g.31778272G>C NC_000006.11 g.31778272G>T NG_011855.1 g.9564C>T NG_011855.1 g.9564C>G NG_011855.1 g.9564C>A NM_005527.4 c.1478C>T 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 rs2070923 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11275998G>C NC_000016.10 g.11275998G>T NC_000016.9 g.11369855G>C NC_000016.9 g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2 LOC105371082 105371082 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 rs2053087 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50856460G>A NC_000019.9 g.51359716G>A NG_011653.1 g.6546G>A|SEQ=[G/A]|GENE=KLK3 rs2003783 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50858216C>A NC_000019.10 g.50858216C>T NC_000019.9 g.51361472C>A NC_000019.9 g.51361472C>T NG_011653.1 g.8302C>A NG_011653.1 g.8302C>T NM_001648.2 c.394C>A NM_001648.2 c.394C>T NM_001030047.1 c.394C>A NM_001030047.1 c.394C>T NM_0010300 rs1810020 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50858388A>G NC_000019.10 g.50858388A>T NC_000019.9 g.51361644A>G NC_000019.9 g.51361644A>T NG_011653.1 g.8474A>G NG_011653.1 g.8474A>T|SEQ=[A/G/T]|GENE=KLK3 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 rs1646022 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11276073C>G NC_000016.10 g.11276073C>T NC_000016.9 g.11369930C>G NC_000016.9 g.11369930C>T NM_001286359.1 c.298G>C NM_001286359.1 c.298G>A NM_001286359.2 c.298G>C NM_001286359.2 c.298G>A NP_001273288.1 p.Ala100Pro NP_001273288.1 p.Ala1 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 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 rs1061581 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31816809G>A NC_000006.11 g.31784586G>A NG_011855.1 g.3250C>T NT_113891.3 g.3294060G>A NT_113891.2 g.3294166G>A NT_167245.2 g.3064588G>A NT_167245.1 g.3070173G>A NT_167244.2 g.3149431G>A NT_167244.1 g.3099347G>A NT_167248.2 g.3072637G>A rs1048055 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.1629416A>C NC_000020.10 g.1610062A>C NM_018556.4 c.*223T>G NM_018556.3 c.*223T>G XM_005260749.4 c.*223T>G XM_005260749.1 c.*223T>G XM_011529286.2 c.*223T>G NM_080816.2 c.*223T>G NM_080816.3 c.*223T>G NM_001039508.1 c.*223T>G|SEQ=[A/C]| rs1045642 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.87509329A>G NC_000007.14 g.87509329A>T NC_000007.13 g.87138645A>G NC_000007.13 g.87138645A>T NG_011513.1 g.208920T>C NG_011513.1 g.208920T>A NM_000927.4 c.3435T>C NM_000927.4 c.3435T>A NM_001348945.1 c.3645T>C NM_001348945.1 c.3645T>A 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 rs763110 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.172658358C>T NC_000001.10 g.172627498C>T NG_007269.1 g.4314C>T|SEQ=[C/T]|GENE=FASLG rs35397110 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.133027131G>A NC_000023.11 g.133027131G>T NC_000023.10 g.132161159G>A NC_000023.10 g.132161159G>T NG_013268.1 g.6142C>T NG_013268.1 g.6142C>A NM_031907.2 c.1090C>T NM_031907.2 c.1090C>A NM_031907.1 c.1090C>T NM_031907.1 c.1090C>A XM_017 rs759992 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.4788494A>C NC_000016.10 g.4788494A>G NC_000016.9 g.4838495A>C NC_000016.9 g.4838495A>G NG_030315.1 g.5028T>G NG_030315.1 g.5028T>C NM_144605.4 c.-237T>G NM_144605.4 c.-237T>C NM_001154458.2 c.-237T>G NM_001154458.2 c.-237T>C XM_0115225 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 rs680730 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.117604518C>T NC_000011.9 g.117475233C>T NG_051656.1 g.197744G>A|SEQ=[C/T]|GENE=DSCAML1 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 rs373341 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.42691014T>C NC_000006.12 g.42691014T>G NC_000006.11 g.42658752T>C NC_000006.11 g.42658752T>G|SEQ=[T/C/G]|GENE=UBR2 rs266881 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50855077C>A NC_000019.10 g.50855077C>G NC_000019.9 g.51358333C>A NC_000019.9 g.51358333C>G NG_011653.1 g.5163C>A NG_011653.1 g.5163C>G|SEQ=[C/A/G]|GENE=KLK3 rs266875 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50858681G>A NC_000019.10 g.50858681G>C NC_000019.9 g.51361937G>A NC_000019.9 g.51361937G>C NG_011653.1 g.8767G>A NG_011653.1 g.8767G>C|SEQ=[G/A/C]|GENE=KLK3 rs175080 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75047125G>A NC_000014.8 g.75513828G>A NG_008649.1 g.9408C>T NM_014381.3 c.2531C>T NM_014381.2 c.2531C>T NM_001040108.2 c.2531C>T NM_001040108.1 c.2531C>T XM_005267532.5 c.2531C>T XM_005267532.1 c.2531C>T XM_005267533.5 c.2531C>T XM_0052 rs174776 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50856596T>C NC_000019.9 g.51359852T>C NG_011653.1 g.6682T>C|SEQ=[T/C]|GENE=KLK3 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 rs13078 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.95090410A>C NC_000014.9 g.95090410A>T NC_000014.8 g.95556747A>C NC_000014.8 g.95556747A>T NG_016311.1 g.72013T>G NG_016311.1 g.72013T>A NM_030621.4 c.*88T>G NM_030621.4 c.*88T>A NM_030621.3 c.*88T>G NM_030621.3 c.*88T>A NM_177438.3 c.*8 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 rs11594 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.45542073C>A NC_000020.11 g.45542073C>G NC_000020.11 g.45542073C>T NC_000020.10 g.44170712C>A NC_000020.10 g.44170712C>G NC_000020.10 g.44170712C>T NM_020398.3 c.*71G>T NM_020398.3 c.*71G>C NM_020398.3 c.*71G>A NM_020398.4 c.*71G>T NM_0 rs11573 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50856241T>C NC_000019.9 g.51359497T>C NG_011653.1 g.6327T>C NM_001648.2 c.48T>C NM_001030047.1 c.48T>C NM_001030048.1 c.48T>C|SEQ=[T/C]|GENE=KLK3 rs6998 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.50860405G>A NC_000019.9 g.51363661G>A NG_011653.1 g.10491G>A NM_001648.2 c.*278G>A NM_001030047.1 c.*789G>A NM_001030048.1 c.*278G>A|SEQ=[G/A]|GENE=KLK3 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 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 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_ rs4680 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19963748G>A NC_000022.10 g.19951271G>A NG_011526.1 g.27009G>A NM_000754.4 c.472G>A NM_000754.3 c.472G>A NM_007310.3 c.322G>A NM_007310.2 c.322G>A NM_001362828.2 c.472G>A NM_001362828.1 c.472G>A NM_001135161.2 c.472G>A NM_001135161.1 c. rs3736599 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.69860103C>T NC_000004.11 g.70725821C>T NM_005420.3 c.-64G>A NM_005420.2 c.-64G>A XM_011532210.2 c.-64G>A|SEQ=[C/T]|GENE=SULT1E1 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 rs7588620 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.227534764T>A NC_000002.12 g.227534764T>C NC_000002.11 g.228399480T>A NC_000002.11 g.228399480T>C|SEQ=[T/A/C]|GENE=AGFG1 rs13426422 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.227485023T>G NC_000002.11 g.228349739T>G|SEQ=[T/G]|GENE=AGFG1 rs13382948 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.227554241A>G NC_000002.11 g.228418957A>G|SEQ=[A/G]|GENE=AGFG1 rs11749327 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.457146C>A NC_000005.9 g.457261C>A|SEQ=[C/A]|GENE=EXOC3 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 rs17262815 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.129478919T>C NC_000008.10 g.130491165T>C|SEQ=[T/C]|GENE=CCDC26 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 rs1858800 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.72990377C>T NC_000016.9 g.73024276C>T NG_013211.1 g.73259G>A NG_013211.2 g.906555G>A|SEQ=[C/T]|GENE=ZFHX3 rs17747401 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.74640406C>T NC_000010.10 g.76400164C>T NG_030484.2 g.494222C>T NG_030484.1 g.494222C>T|SEQ=[C/T]|GENE=ADK rs201934623 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.67546320C>T NC_000023.10 g.66766162C>T NG_009014.2 g.7289C>T NM_000044.6 c.1174C>T NM_000044.5 c.1174C>T NM_000044.4 c.1174C>T NM_000044.3 c.1174C>T NM_001011645.3 c.-610C>T NM_001348061.1 c.1174C>T NM_001348064.1 c.1174C>T NM_00134806 rs148454792 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.30233737C>A NC_000011.9 g.30255284C>A NG_008144.1 g.7722C>A NM_000510.3 c.327C>A NM_000510.2 c.327C>A NM_001018080.2 c.327C>A NM_001018080.1 c.327C>A NP_000501.1 p.Ser109Arg NP_001018090.1 p.Ser109Arg|SEQ=[C/A]|GENE=FSHB LOC105376 rs6170 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.30231961G>T NC_000011.9 g.30253508G>T NG_008144.1 g.5946G>T NM_000510.3 c.59G>T NM_000510.2 c.59G>T NM_001018080.2 c.59G>T NM_001018080.1 c.59G>T NP_000501.1 p.Ser20Ile NP_001018090.1 p.Ser20Ile|SEQ=[G/T]|GENE=FSHB LOC105376607 10 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 rs1127354 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.3213196C>A NC_000020.11 g.3213196C>G NC_000020.10 g.3193842C>A NC_000020.10 g.3193842C>G NG_012093.2 g.9330C>A NG_012093.2 g.9330C>G NM_033453.4 c.94C>A NM_033453.4 c.94C>G NM_033453.3 c.94C>A NM_033453.3 c.94C>G NM_181493.4 c.43C>A NM 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. rs3827527 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.4788322G>A NC_000016.9 g.4838323G>A NG_030315.1 g.5200C>T NM_144605.5 c.-65C>T NM_144605.4 c.-65C>T NM_001154458.3 c.-65C>T NM_001154458.2 c.-65C>T XM_011522379.3 c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12 SMIM22 440335 rs2267437 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.41620695C>A NC_000022.11 g.41620695C>G NC_000022.10 g.42016699C>A NC_000022.10 g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6 DESI1 27351 rs1057035 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.95087805T>C NC_000014.8 g.95554142T>C NG_016311.1 g.74618A>G NM_030621.4 c.*2693A>G NM_030621.3 c.*2693A>G NM_177438.3 c.*2693A>G NM_177438.2 c.*2693A>G NM_001271282.3 c.*2693A>G NM_001271282.2 c.*2693A>G NM_001291628.1 c.*2693A>G NM_00 rs7910927 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.63379150T>A NC_000010.11 g.63379150T>G NC_000010.10 g.65138910T>A NC_000010.10 g.65138910T>G NG_053187.1 g.147926A>T NG_053187.1 g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C rs10822184 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.63577393T>C NC_000010.11 g.63577393T>G NC_000010.10 g.65337153T>C NC_000010.10 g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3 rs5498 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.10285007A>G NC_000019.9 g.10395683A>G NG_012083.1 g.19167A>G NM_000201.3 c.1405A>G NM_000201.2 c.1405A>G NG_007728.1 g.3034A>G NP_000192.2 p.Lys469Glu|SEQ=[A/G]|GENE=ICAM1 ICAM4 3386 rs759981524 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.86579956A>C NC_000001.11 g.86579956A>G NC_000001.11 g.86579956A>T NC_000001.10 g.87045639A>C NC_000001.10 g.87045639A>G NC_000001.10 g.87045639A>T NM_012128.4 c.2371A>C NM_012128.4 c.2371A>G NM_012128.4 c.2371A>T NM_012128.3 c.2371A>C rs757773924 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.86578055C>G NC_000001.11 g.86578055C>T NC_000001.10 g.87043738C>G NC_000001.10 g.87043738C>T NM_012128.4 c.2105C>G NM_012128.4 c.2105C>T NM_012128.3 c.2105C>G NM_012128.3 c.2105C>T XM_011541015.2 c.1952C>G XM_011541015.2 c.1952C>T NR_0 rs11763979 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.141762737G>A NC_000007.14 g.141762737G>T NC_000007.13 g.141462537G>A NC_000007.13 g.141462537G>T|SEQ=[G/A/T]|GENE=TAS2R3 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 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 rs4919686 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.102832492A>C NC_000010.10 g.104592249A>C NG_007955.1 g.10042T>G|SEQ=[A/C]|GENE=CYP17A1 CYP17A1-AS1 102724307 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 rs7194 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.32444703G>A NC_000006.12 g.32444703G>C NC_000006.11 g.32412480G>A NC_000006.11 g.32412480G>C NT_113891.3 g.3882792G>A NT_113891.3 g.3882792G>C NT_113891.2 g.3882898G>A NT_113891.2 g.3882898G>C NG_002392.2 g.9003G>A NG_002392.2 g.9003G> 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 rs370681 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.342461C>T NC_000016.9 g.392461C>T NG_012267.1 g.15004G>A|SEQ=[C/T]|GENE=AXIN1 rs1805105 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.346264A>G NC_000016.9 g.396264A>G NG_012267.1 g.11201T>C NM_003502.4 c.762T>C NM_003502.3 c.762T>C NM_181050.3 c.762T>C NM_181050.2 c.762T>C NR_134879.2 n.1198T>C NR_134879.1 n.1151T>C XM_011522682.2 c.909T>C XM_011522683.2 c.909T>C XM rs1048943 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.74720644T>A NC_000015.10 g.74720644T>C NC_000015.10 g.74720644T>G NC_000015.9 g.75012985T>A NC_000015.9 g.75012985T>C NC_000015.9 g.75012985T>G NG_008431.2 g.3103T>A NG_008431.2 g.3103T>C NG_008431.2 g.3103T>G NM_000499.4 c.1384A>T NM_ rs26279 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.80873118G>A NC_000005.9 g.80168937G>A NG_016607.2 g.223644G>A NG_016607.1 g.223644G>A NM_002439.5 c.3133G>A NM_002439.4 c.3133G>A NP_002430.3 p.Ala1045Thr|SEQ=[G/A]|GENE=MSH3 rs139884 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.37973969A>G NC_000022.10 g.38369976A>G NG_007948.1 g.15564T>C NM_006941.4 c.927T>C NM_006941.3 c.927T>C|SEQ=[A/G]|GENE=POLR2F SOX10 6663 rs121912556 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.17816945C>T NC_000019.9 g.17927754C>T NG_012092.1 g.9567G>A NM_005543.4 c.305G>A NM_005543.3 c.305G>A NM_001265587.2 c.400G>A NM_001265587.1 c.400G>A NP_005534.2 p.Arg102His NP_001252516.1 p.Ala134Thr|SEQ=[C/T]|GENE=INSL3 rs10421916 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.17818178A>G NC_000019.10 g.17818178A>T NC_000019.9 g.17928987A>G NC_000019.9 g.17928987A>T NG_012092.1 g.8334T>C NG_012092.1 g.8334T>A|SEQ=[A/G/T]|GENE=INSL3 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 rs6461992 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.27181212A>G NC_000007.14 g.27181212A>T NC_000007.13 g.27220831A>G NC_000007.13 g.27220831A>T NG_012079.1 g.9005T>C NG_012079.1 g.9005T>A NM_005523.6 c.*1584T>C NM_005523.6 c.*1584T>A NM_005523.5 c.*1584T>C NM_005523.5 c.*1584T>A|SEQ=[A 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 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 rs4646903 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.74719300A>G NC_000015.10 g.74719300A>T NC_000015.9 g.75011641A>G NC_000015.9 g.75011641A>T NG_008431.2 g.1759A>G NG_008431.2 g.1759A>T NG_061374.1 g.11229T>C NG_061374.1 g.11229T>A|SEQ=[A/G/T]|GENE=CYP1A1 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 rs189037 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.108223106G>A NC_000011.9 g.108093833G>A NG_009830.1 g.5275G>A NM_000051.4 c.-111G>A NM_000051.3 c.-111G>A NM_001351834.2 c.-199G>A NM_001351834.1 c.-199G>A NM_001351835.1 c.-111G>A XM_011542844.3 c.-1133G>A XM_011542842.3 c.-111G>A XM_ rs3917187 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75965793T>C NC_000014.8 g.76432136T>C NG_011715.1 g.20957A>G|SEQ=[T/C]|GENE=TGFB3 rs2430561 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.68158742T>A NC_000012.11 g.68552522T>A NG_015840.1 g.6000A>T|SEQ=[T/A]|GENE=IFNG 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 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 rs3021522 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.2799979C>G NC_000012.11 g.2909145C>G|SEQ=[C/G]|GENE=FKBP4 ITFG2-AS1 283440 rs2297518 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.27769571G>A NC_000017.10 g.26096597G>A NG_011470.1 g.35959C>T NM_000625.4 c.1823C>T NP_000616.3 p.Ser608Leu|SEQ=[G/A]|GENE=NOS2 rs3747052 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19131479A>G NC_000022.11 g.19131479A>T NC_000022.10 g.19118992A>G NC_000022.10 g.19118992A>T NG_008320.1 g.18199T>C NG_008320.1 g.18199T>A NM_022719.3 c.*2717T>C NM_022719.3 c.*2717T>A NM_022719.2 c.*2717T>C NM_022719.2 c.*2717T>A NR_1 rs1052756 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19132173C>T NC_000022.10 g.19119686C>T NG_008320.1 g.17505G>A NM_022719.3 c.*2023G>A NM_022719.2 c.*2023G>A NR_134304.2 n.3542G>A NR_134304.1 n.3568G>A NM_053006.5 c.774C>T NM_053006.4 c.774C>T|SEQ=[C/T]|GENE=ESS2 TSSK2 23617 rs1052763 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19132238C>T NC_000022.10 g.19119751C>T NG_008320.1 g.17440G>A NM_022719.3 c.*1958G>A NM_022719.2 c.*1958G>A NR_134304.2 n.3477G>A NR_134304.1 n.3503G>A NM_053006.5 c.839C>T NM_053006.4 c.839C>T NP_443732.3 p.Thr280Met|SEQ=[C/T]|GENE=ES rs1052773 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19132425G>A NC_000022.10 g.19119938G>A NG_008320.1 g.17253C>T NM_022719.3 c.*1771C>T NM_022719.2 c.*1771C>T NR_134304.2 n.3290C>T NR_134304.1 n.3316C>T NM_053006.5 c.1026G>A NM_053006.4 c.1026G>A|SEQ=[G/A]|GENE=ESS2 TSSK2 23617 rs3134885 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.54701722A>C NC_000004.11 g.55567888A>C NG_007456.1 g.48728A>C|SEQ=[A/C]|GENE=KIT rs2237012 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.54733832A>G NC_000004.11 g.55599998A>G NG_007456.1 g.80838A>G|SEQ=[A/G]|GENE=KIT 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 rs808119 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.8536792C>A NC_000023.11 g.8536792C>T NC_000023.10 g.8504833C>A NC_000023.10 g.8504833C>T NG_007088.2 g.200395G>T NG_007088.2 g.200395G>A NG_007088.1 g.200395G>T NG_007088.1 g.200395G>A NM_000216.4 c.1600G>T NM_000216.4 c.1600G>A NM_000 rs809446 Strand: Allele origin: Allele change: Mutation type: snv NC_000023.11 g.8535600G>A NC_000023.10 g.8503641G>A NG_007088.2 g.201587C>T NG_007088.1 g.201587C>T NM_000216.4 c.1833C>T NM_000216.3 c.1833C>T NM_000216.2 c.1833C>T|SEQ=[G/A]|GENE=ANOS1 rs1042064 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.27544615T>C NC_000008.10 g.27402132T>C NG_012064.1 g.58488T>C NM_001979.6 c.*93T>C NM_001979.5 c.*93T>C NM_001256484.2 c.*93T>C NM_001256484.1 c.*93T>C NM_001256482.2 c.*93T>C NM_001256482.1 c.*93T>C NM_001256483.2 c.*93T>C NM_00125648 rs3742330 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.95087025A>G NC_000014.8 g.95553362A>G NG_016311.1 g.75398T>C NM_030621.4 c.*3473T>C NM_030621.3 c.*3473T>C NM_177438.3 c.*3473T>C NM_177438.2 c.*3473T>C NM_001271282.3 c.*3473T>C NM_001271282.2 c.*3473T>C NM_001291628.1 c.*3473T>C NM_00 rs4646422 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.74722964C>G NC_000015.10 g.74722964C>T NC_000015.9 g.75015305C>G NC_000015.9 g.75015305C>T NG_008431.2 g.5423C>G NG_008431.2 g.5423C>T NM_000499.4 c.134G>C NM_000499.4 c.134G>A NM_000499.5 c.134G>C NM_000499.5 c.134G>A NM_000499.3 c.13 rs2241057 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.72134831A>G NC_000002.11 g.72361960A>G NG_007957.1 g.18004T>C NM_019885.3 c.791T>C NM_001277742.1 c.566T>C XM_005264433.4 c.617T>C XM_005264433.1 c.617T>C XM_011532988.1 c.218T>C NP_063938.1 p.Leu264Ser NP_001264671.1 p.Leu189Ser XP_00 rs707718 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.72129320G>C NC_000002.12 g.72129320G>T NC_000002.11 g.72356449G>C NC_000002.11 g.72356449G>T NG_007957.1 g.23515C>G NG_007957.1 g.23515C>A NM_019885.3 c.*2907C>G NM_019885.3 c.*2907C>A NM_001277742.1 c.*2907C>G NM_001277742.1 c.*2907C> 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 rs10269148 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.135230056C>A NC_000007.14 g.135230056C>G NC_000007.13 g.134914808C>A NC_000007.13 g.134914808C>G|SEQ=[C/A/G]|GENE=STRA8 rs17168319 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.135230201A>G NC_000007.13 g.134914953A>G|SEQ=[A/G]|GENE=STRA8 rs17168337 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.135258880C>G NC_000007.13 g.134943632C>G|SEQ=[C/G]|GENE=STRA8 rs180113 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.69928988T>C NC_000017.10 g.67925129T>C|SEQ=[T/C] rs8191246 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.82098435A>G NC_000016.9 g.82132040A>G NM_002153.3 c.1163A>G NM_002153.2 c.1163A>G XR_001751898.2 n.1381A>G NP_002144.1 p.Ter388Trp|SEQ=[A/G]|GENE=HSD17B2 rs2281807 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.1629555C>T NC_000020.10 g.1610201C>T NM_018556.4 c.*84G>A NM_018556.3 c.*84G>A XM_005260749.4 c.*84G>A XM_005260749.1 c.*84G>A XM_011529286.2 c.*84G>A NM_080816.2 c.*84G>A NM_080816.3 c.*84G>A NM_001039508.1 c.*84G>A|SEQ=[C/T]|GENE=SIR rs2059807 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.7166098A>G NC_000019.10 g.7166098A>T NC_000019.9 g.7166109A>G NC_000019.9 g.7166109A>T NG_008852.2 g.132903T>C NG_008852.2 g.132903T>A|SEQ=[A/G/T]|GENE=INSR rs140685149 Strand: Allele origin: Allele change: Mutation type: delins NC_000020.11 g.145673_145674del NC_000020.11 g.145674del NC_000020.11 g.145674dup NC_000020.10 g.126314_126315del NC_000020.10 g.126315del NC_000020.10 g.126315dup NM_030931.4 c.317_318del NM_030931.4 c.318del NM_030931.4 c.318dup NM_030931.3 c.317_3 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 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 rs17167484 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.134371303T>G NC_000005.9 g.133706994T>G NG_042179.2 g.4745A>C NG_046936.1 g.5128T>G NM_003337.3 c.-293T>G XM_017009544.2 c.-937A>C XM_017009545.2 c.-742A>C XM_024446086.1 c.-327A>C XM_024446097.1 c.-729A>C XM_024446096.1 c.-708A>C XM_0 rs3777373 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.134391612A>G NC_000005.9 g.133727303A>G NG_046936.1 g.25437A>G NM_003337.4 c.*1259A>G NM_003337.3 c.*1259A>G NM_003337.2 c.*1259A>G|SEQ=[A/G]|GENE=UBE2B 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 rs1051266 Strand: Allele origin: Allele change: Mutation type: snv NC_000021.9 g.45537880T>C NC_000021.9 g.45537880T>G NC_000021.8 g.46957794T>C NC_000021.8 g.46957794T>G NG_028278.2 g.30264A>G NG_028278.2 g.30264A>C NM_194255.4 c.80A>G NM_194255.4 c.80A>C NM_194255.3 c.80A>G NM_194255.3 c.80A>C NM_194255.2 c.80A>G 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 rs2291102 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.3148507G>A NC_000010.10 g.3190699G>A NG_052908.1 g.29335C>T NR_038284.1 n.3954G>A|SEQ=[G/A]|GENE=PITRM1 PITRM1-AS1 100507034 rs6313 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.46895805G>A NC_000013.11 g.46895805G>C NC_000013.10 g.47469940G>A NC_000013.10 g.47469940G>C NG_013011.1 g.6230C>T NG_013011.1 g.6230C>G NM_000621.5 c.102C>T NM_000621.5 c.102C>G NM_000621.4 c.102C>T NM_000621.4 c.102C>G NM_001378924.1 rs140132974 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.135697628C>T NC_000009.11 g.138589474C>T NG_033070.1 g.444C>T NG_033784.1 g.6901G>A|SEQ=[C/T]|GENE=SOHLH1 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 rs1399645 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.139390262C>G NC_000002.12 g.139390262C>T NC_000002.11 g.140147832C>G NC_000002.11 g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644 rs2063802 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.139384878G>A NC_000002.12 g.139384878G>C NC_000002.11 g.140142448G>A NC_000002.11 g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644 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 rs4541736 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.40722258C>A NC_000006.12 g.40722258C>G NC_000006.12 g.40722258C>T NC_000006.11 g.40689997C>A NC_000006.11 g.40689997C>G NC_000006.11 g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052 rs1545125 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.51083534A>G NC_000007.13 g.51151231A>G NG_051816.1 g.238328T>C|SEQ=[A/G]|GENE=COBL rs1164594027 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.4787507C>T NC_000016.9 g.4837508C>T NG_030315.1 g.6015G>A NM_144605.5 c.139G>A NM_144605.4 c.139G>A NM_001154458.3 c.139G>A NM_001154458.2 c.139G>A XM_011522379.3 c.-65G>A XM_006720846.2 c.139G>A XM_024450155.1 c.139G>A NP_653206.2 p.G rs1384271239 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.4787501C>G NC_000016.9 g.4837502C>G NG_030315.1 g.6021G>C NM_144605.5 c.145G>C NM_144605.4 c.145G>C NM_001154458.3 c.145G>C NM_001154458.2 c.145G>C XM_011522379.3 c.-59G>C XM_006720846.2 c.145G>C XM_024450155.1 c.145G>C NP_653206.2 p.G |
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Protein Summary |
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Gene ontology
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Diseases
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PubMed references
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