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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.010 1.000 1 2007 2007
dbSNP: rs1343151
rs1343151
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs2165047
rs2165047
2 1.000 0.040 10 77791882 3 prime UTR variant C/T snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2013 2013
dbSNP: rs3792876
rs3792876
7 0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02 0.010 1.000 1 2007 2007