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: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1996 2006
dbSNP: rs75391579
rs75391579
5 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 < 0.001 1 2006 2006