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: rs63750812
rs63750812
2 0.925 0.080 1 226885623 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 1998 1998