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: rs78311289
rs78311289
4 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.890 0.909 3 1995 2018