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: rs125555
rs125555
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.020 1.000 2 2005 2008