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: rs120074179
rs120074179
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.710 1.000 11 1996 2012