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: rs137853266
rs137853266
2 0.925 0.160 X 54467796 missense variant C/A;T snv 0.700 1.000 11 1996 2014
dbSNP: rs1557189592
rs1557189592
2 1.000 X 54470120 stop gained G/A snv 0.700 1.000 11 1996 2014
dbSNP: rs1557189252
rs1557189252
2 1.000 X 54465532 missense variant G/A snv 0.700 0