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: rs587782652
rs587782652
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.710 1.000 11 1989 2019