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: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.090 1.000 9 2012 2018