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: rs763098034
rs763098034
2 0.925 0.080 7 76302821 missense variant C/G;T snv 3.9E-05 0.010 < 0.001 1 2002 2002