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: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.810 1.000 3 1996 2007