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: rs63750129
rs63750129
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.820 1.000 6 1999 2008