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: rs779707422
rs779707422
12 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019