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: rs121912580
rs121912580
7 0.807 0.280 18 51067036 missense variant G/A;C;T snv 0.800 1.000 1 2004 2004