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: rs1040747
rs1040747
1 1.000 0.040 20 34558028 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11568810
rs11568810
1 1.000 0.040 9 99150648 3 prime UTR variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs13081864
rs13081864
1 1.000 0.040 3 128771430 intron variant C/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2017 2017
dbSNP: rs2245214
rs2245214
6 0.827 0.240 6 106214866 intron variant C/G snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs5743611
rs5743611
7 0.807 0.160 4 38798593 missense variant C/G snv 6.9E-02 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs8682
rs8682
1 1.000 0.040 3 19984917 3 prime UTR variant C/G snv 0.21 0.010 1.000 1 2019 2019