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: rs1193184183
rs1193184183
1 1.000 0.080 X 154546076 missense variant T/C snv 1.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs121918641
rs121918641
1 0.882 0.080 1 158685289 missense variant C/A;T snv 4.1E-06; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs137852335
rs137852335
1 0.925 0.120 X 154532674 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1556323334
rs1556323334
1 0.925 0.080 X 139789451 missense variant G/T snv 0.010 1.000 1 2019 2019