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: rs201802880
rs201802880
4 0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03 0.010 1.000 1 2017 2017