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: rs80359014
rs80359014
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.800 0
dbSNP: rs1016604233
rs1016604233
1 1.000 0.080 7 139911241 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1033602309
rs1033602309
1 1.000 0.080 X 9937279 missense variant G/C snv 0.700 0
dbSNP: rs1034429230
rs1034429230
1 1.000 0.080 1 212365260 missense variant C/G snv 1.4E-05 0.700 0
dbSNP: rs104894097
rs104894097
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 0
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs1057517539
rs1057517539
2 1.000 0.080 16 23629214 stop gained G/T snv 0.700 0
dbSNP: rs1057517563
rs1057517563
1 1.000 0.080 16 23603595 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517585
rs1057517585
2 1.000 0.080 16 23641155 start lost C/T snv 0.700 0
dbSNP: rs1057517596
rs1057517596
1 1.000 0.080 22 28699937 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1057517600
rs1057517600
2 1.000 0.080 16 23607958 frameshift variant G/- del 0.700 0
dbSNP: rs1057517643
rs1057517643
3 0.882 0.280 17 61744578 stop gained A/T snv 0.700 0
dbSNP: rs1057517648
rs1057517648
4 0.882 0.280 17 61859795 splice donor variant C/- delins 0.700 0
dbSNP: rs1057519927
rs1057519927
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1060499814
rs1060499814
2 1.000 0.080 16 23638069 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1060499819
rs1060499819
2 1.000 0.080 16 23630062 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs1060499827
rs1060499827
2 1.000 0.080 16 23608014 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1060501287
rs1060501287
1 1.000 0.080 2 214769302 frameshift variant G/- delins 0.700 0
dbSNP: rs1060501291
rs1060501291
1 1.000 0.080 2 214780940 stop gained T/A;G snv 0.700 0
dbSNP: rs1060501310
rs1060501310
1 1.000 0.080 2 214752446 splice donor variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1060501739
rs1060501739
2 0.925 0.200 17 61784403 stop gained G/A snv 0.700 0
dbSNP: rs1060501740
rs1060501740
2 0.925 0.200 17 61857167 stop gained G/T snv 1.2E-05 0.700 0
dbSNP: rs1060501757
rs1060501757
2 0.925 0.200 17 61781006 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1060501763
rs1060501763
2 0.925 0.200 17 61859794 splice donor variant A/C snv 0.700 0
dbSNP: rs1060501765
rs1060501765
2 0.925 0.200 17 61847214 stop gained T/A;C snv 0.700 0