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: rs121909631
rs121909631
5 0.827 0.280 8 38419696 missense variant T/C snv 0.010 1.000 1 2002 2002