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: rs121909005
rs121909005
5 0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06 0.820 1.000 40 1990 2016