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: rs72554634
rs72554634
1 1.000 0.120 X 75071516 missense variant A/C;T snv 1.6E-05 0.810 1.000 1 1999 2012
dbSNP: rs515726147
rs515726147
1 1.000 0.120 X 75075593 missense variant T/A snv 0.800 1.000 1 1999 2012
dbSNP: rs80356713
rs80356713
1 0.925 0.120 X 75070499 missense variant C/A;G snv 0.800 0
dbSNP: rs80356714
rs80356714
1 1.000 0.120 X 75070433 missense variant C/T snv 0.800 0
dbSNP: rs1057518042
rs1057518042
1 1.000 0.120 X 75070495 missense variant A/G snv 0.700 0