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: rs72658864
rs72658864
4 0.925 0.160 19 11116886 missense variant T/C snv 2.4E-05 0.010 1.000 1 2014 2014