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: rs2237051
rs2237051
EGF
3 0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2018 2018