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: rs121907892
rs121907892
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.010 1.000 1 2013 2013