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: rs61734659
rs61734659
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.020 1.000 2 2006 2009
dbSNP: rs748405415
rs748405415
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.020 1.000 2 2006 2009