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: rs11249006
rs11249006
1 1.000 0.080 1 24155984 3 prime UTR variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1297986
rs1297986
2 1.000 0.080 3 107912675 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1480480967
rs1480480967
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs1800803
rs1800803
1 1.000 0.080 4 99574424 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs2278034
rs2278034
1 1.000 0.080 3 195870036 3 prime UTR variant T/C;G snv 0.44; 2.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs2834167
rs2834167
11 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 0.010 1.000 1 2011 2011
dbSNP: rs10853728
rs10853728
5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.020 0.500 2 2011 2012
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.020 1.000 2 2010 2012
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.020 1.000 2 2011 2012
dbSNP: rs1049606
rs1049606
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs20576
rs20576
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2237062
rs2237062
3 0.882 0.120 5 135576874 intron variant G/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs2629751
rs2629751
2 0.925 0.120 12 104028030 intron variant A/G snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs4074
rs4074
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs5743704
rs5743704
9 0.763 0.240 4 153704799 missense variant C/A snv 2.8E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs8105790
rs8105790
2 0.925 0.160 19 39241861 upstream gene variant T/C snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs9380516
rs9380516
2 0.925 0.120 6 35534425 TF binding site variant T/C snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs14158
rs14158
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.030 1.000 3 2011 2013
dbSNP: rs7248668
rs7248668
3 0.925 0.080 19 39253181 upstream gene variant G/A snv 0.16 0.020 1.000 2 2013 2013
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2013 2013
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2013 2013
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2013 2013