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: rs80338880
rs80338880
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs200249435
rs200249435
5 0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06 0.010 1.000 1 2008 2008