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: rs2303298
rs2303298
1 1.000 0.040 2 50623548 synonymous variant G/A snv 2.5E-02 1.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs768913131
rs768913131
3 0.925 0.040 2 50552821 missense variant G/A snv 0.010 1.000 1 2004 2004