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: rs746147592
rs746147592
2 1.000 0.160 X 100665627 missense variant G/A;C snv 5.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2004 2004