Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10025419
rs10025419
1 4 100647799 intron variant G/A snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs11087114
rs11087114
1 20 14931037 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs113162402
rs113162402
1 17 58522103 splice acceptor variant T/A snv 0.700 1.000 1 2015 2015
dbSNP: rs12587266
rs12587266
1 14 92580298 intron variant A/G snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs139231591
rs139231591
1 3 48342403 regulatory region variant C/T snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs1408270
rs1408270
1 6 25872956 intron variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs1552896
rs1552896
1 9 14841389 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1800452
rs1800452
1 3 46373570 missense variant G/A snv 4.9E-03 1.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs2280828
rs2280828
1 8 117750197 intergenic variant T/C snv 4.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs2586052
rs2586052
1 17 57885718 5 prime UTR variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2853699
rs2853699
1 3 39332411 missense variant C/A;G;T snv 4.0E-06; 0.21; 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs2866233
rs2866233
1 4 100649444 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2907092
rs2907092
1 5 11047569 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs3807044
rs3807044
1 6 39322933 5 prime UTR variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs396716
rs396716
1 1 161544806 missense variant A/G snv 7.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs4349147
rs4349147
1 16 3074919 intron variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs4761669
rs4761669
1 12 94793846 intergenic variant T/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs6575267
rs6575267
1 14 92580988 intron variant A/C snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs6909587
rs6909587
1 6 155880114 intergenic variant C/T snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs7154653
rs7154653
1 14 92577033 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs73112098
rs73112098
1 5 67247451 regulatory region variant A/G snv 4.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs75158213
rs75158213
1 3 48345739 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs7640677
rs7640677
1 3 48340996 intergenic variant G/A snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs765009973
rs765009973
1 3 46373909 missense variant G/T snv 7.4E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs7935564
rs7935564
1 11 5697287 missense variant G/A snv 0.52 0.55 0.010 1.000 1 2016 2016