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: rs869312892
rs869312892
3 0.925 0.120 17 42316899 missense variant G/A snv 0.800 1.000 3 2014 2017
dbSNP: rs587777648
rs587777648
2 0.925 0.120 17 42329612 missense variant T/C snv 0.800 1.000 2 2014 2017
dbSNP: rs587777649
rs587777649
1 1.000 17 42322445 missense variant G/A;C snv 4.0E-06 0.800 1.000 2 2014 2017
dbSNP: rs587777650
rs587777650
1 1.000 17 42322409 missense variant C/G snv 0.800 1.000 2 2014 2017
dbSNP: rs10444776
rs10444776
4 0.882 14 105647030 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10748781
rs10748781
11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11117433
rs11117433
6 0.827 0.160 16 85985910 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11757201
rs11757201
5 0.851 0.040 6 137682685 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11785816
rs11785816
4 0.882 8 128518940 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1332099
rs1332099
14 0.724 0.240 10 99538694 downstream gene variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs142647938
rs142647938
4 0.882 2 162516642 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1443438
rs1443438
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1800601
rs1800601
4 0.882 1 156815825 5 prime UTR variant G/A;T snv 0.67; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1921445
rs1921445
4 0.882 3 106229671 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs193922717
rs193922717
2 0.925 0.120 17 42329448 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs221781
rs221781
4 0.882 7 100698285 upstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2738774
rs2738774
14 0.724 0.240 20 63637985 downstream gene variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs2807264
rs2807264
14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs391851
rs391851
4 0.882 5 103342219 intergenic variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4246905
rs4246905
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs55705316
rs55705316
14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015