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: rs72554071
rs72554071
4 0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06 0.010 1.000 1 2012 2012