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: rs515726224
rs515726224
3 0.925 0.320 8 38417962 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs515726225
rs515726225
2 1.000 0.160 8 38414254 missense variant G/A snv 0.700 1.000 1 2013 2013