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: rs2660753
rs2660753
9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.020 0.500 2 2008 2011
dbSNP: rs3814113
rs3814113
5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.020 1.000 2 2011 2012
dbSNP: rs633862
rs633862
5 0.925 0.120 9 133279871 upstream gene variant T/C snv 0.49 0.020 1.000 2 2014 2017
dbSNP: rs1017134
rs1017134
2 0.925 0.120 7 35307237 intergenic variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1192691
rs1192691
2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs142091544
rs142091544
2 0.925 0.120 5 168286995 upstream gene variant C/T snv 2.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs4286604
rs4286604
2 0.925 0.120 4 69576447 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs4954956
rs4954956
3 0.882 0.120 2 138787007 regulatory region variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs67397200
rs67397200
5 0.827 0.160 19 17290595 upstream gene variant C/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs6785617
rs6785617
4 0.882 0.120 3 172501054 downstream gene variant A/T snv 3.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs7313833
rs7313833
4 0.851 0.120 12 27930263 intergenic variant G/A snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs7365052
rs7365052
3 0.882 0.120 1 236786561 intergenic variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs7501462
rs7501462
2 0.925 0.120 17 16974091 upstream gene variant A/G snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs7748275
rs7748275
3 0.882 0.120 6 3580855 downstream gene variant T/A snv 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs874945
rs874945
14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 1.000 3 2006 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs2229109
rs2229109
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs35068177
rs35068177
3 0.882 0.120 7 87550213 synonymous variant T/C snv 2.2E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs533117495
rs533117495
5 0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1127313
rs1127313
1 1.000 0.120 1 154583949 3 prime UTR variant G/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs186724
rs186724
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1955513
rs1955513
2 0.925 0.120 14 32706736 intron variant T/G snv 0.11 0.010 1.000 1 2018 2018