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: rs1057518697
rs1057518697
2 0.925 0.120 X 53210820 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs1057517955
rs1057517955
2 0.925 0.080 X 53199128 missense variant C/T snv 0.700 0
dbSNP: rs1135401800
rs1135401800
1 1.000 0.080 X 53198524 stop gained G/A snv 0.700 0
dbSNP: rs1556842184
rs1556842184
1 1.000 0.080 X 53201925 missense variant G/A snv 0.700 0
dbSNP: rs1556852362
rs1556852362
1 1.000 0.080 X 53217205 stop gained G/A snv 0.700 0
dbSNP: rs1569279367
rs1569279367
1 1.000 0.080 X 53217207 missense variant C/T snv 0.700 0
dbSNP: rs199422234
rs199422234
1 1.000 0.080 X 53199029 missense variant G/A snv 0.800 0
dbSNP: rs199422235
rs199422235
2 0.925 0.080 X 53211867 missense variant C/G snv 0.800 0
dbSNP: rs199422236
rs199422236
1 1.000 0.080 X 53199140 stop gained G/A snv 0.700 0
dbSNP: rs199422237
rs199422237
1 1.000 0.080 X 53211545 missense variant G/A;C snv 1.6E-05 0.800 0
dbSNP: rs199422238
rs199422238
1 1.000 0.080 X 53198836 missense variant G/A snv 5.4E-06 0.700 0
dbSNP: rs199422239
rs199422239
1 1.000 0.080 X 53218398 missense variant C/T snv 0.700 0
dbSNP: rs281860639
rs281860639
2 1.000 0.080 X 53199048 stop gained G/T snv 0.700 0
dbSNP: rs387906729
rs387906729
1 1.000 0.080 X 53210500 missense variant G/T snv 9.4E-06 0.700 0
dbSNP: rs587780372
rs587780372
1 1.000 0.080 X 53210547 missense variant G/A snv 0.700 0
dbSNP: rs782205045
rs782205045
1 1.000 0.080 X 53194735 missense variant C/T snv 1.1E-05 0.700 0
dbSNP: rs782246658
rs782246658
1 1.000 0.080 X 53195918 stop gained G/A;T snv 0.700 0
dbSNP: rs886037836
rs886037836
1 1.000 0.080 X 53220911 missense variant C/A snv 0.700 0
dbSNP: rs1057519393
rs1057519393
2 1.000 0.080 X 53197768 splice donor variant -/A delins 0.700 0
dbSNP: rs1060499661
rs1060499661
1 1.000 0.080 X 53216085 frameshift variant AG/- delins 0.700 0
dbSNP: rs1131692227
rs1131692227
6 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
dbSNP: rs1569258293
rs1569258293
1 1.000 0.080 X 53194604 frameshift variant CCAC/- delins 0.700 0
dbSNP: rs1569278313
rs1569278313
1 1.000 0.080 X 53215951 frameshift variant G/- delins 0.700 0
dbSNP: rs1569285361
rs1569285361
1 1.000 0.080 X 53224790 frameshift variant T/- delins 0.700 0