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: rs200936057
rs200936057
1 1.000 0.080 17 4143774 missense variant C/G;T snv 4.8E-05; 2.4E-05 0.700 0
dbSNP: rs145011101
rs145011101
1 1.000 0.080 19 56223783 missense variant C/G;T snv 9.5E-05; 4.0E-05 0.700 0
dbSNP: rs750071607
rs750071607
1 1.000 0.080 6 28126805 missense variant G/A snv 2.2E-05 0.700 0
dbSNP: rs369664812
rs369664812
1 1.000 0.080 7 101223799 missense variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs12646351
rs12646351
10 0.790 0.080 4 145819473 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17806780
rs17806780
10 0.790 0.080 4 145811502 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs13230517
rs13230517
1 1.000 0.080 7 64076947 intron variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs10414971
rs10414971
1 1.000 0.080 19 12351131 missense variant G/A snv 1.9E-03 7.8E-03 0.700 0
dbSNP: rs757755988
rs757755988
1 1.000 0.080 19 12350857 missense variant C/G;T snv 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs200399581
rs200399581
1 1.000 0.080 19 21809307 missense variant G/A snv 1.8E-04 2.0E-04 0.700 0
dbSNP: rs757067821
rs757067821
1 1.000 0.080 3 21421246 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1338565
rs1338565
1 1.000 0.080 10 43564228 intron variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs767530299
rs767530299
1 1.000 0.080 20 53581860 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1345352474
rs1345352474
1 1.000 0.080 19 43997278 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs191217255
rs191217255
1 1.000 0.080 1 35415633 missense variant C/T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs704017
rs704017
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.810 1.000 7 2014 2019
dbSNP: rs1250567
rs1250567
10 0.776 0.080 10 79286508 intron variant T/C snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs12373
rs12373
2 0.925 0.080 16 2832196 3 prime UTR variant G/T snv 0.66 0.63 0.010 1.000 1 2015 2015
dbSNP: rs568589179
rs568589179
1 1.000 0.080 8 17217176 missense variant G/C snv 0.700 0
dbSNP: rs10511330
rs10511330
10 0.776 0.080 3 114402172 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs3747093
rs3747093
16 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs2267437
rs2267437
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11685387
rs11685387
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs9288518
rs9288518
9 0.776 0.240 2 216196997 intron variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs6869366
rs6869366
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2015 2019