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: rs738409
rs738409
55 0.590 0.536 22 43928847 missense variant C/G snp 0.28 0.22 0.100 1.000 14 2010 2016
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.090 1.000 9 2011 2018
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.090 1.000 9 1999 2016
dbSNP: rs8099917
rs8099917
38 0.618 0.464 19 39252525 intergenic variant T/G snp 0.15 0.040 1.000 4 2011 2014
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.020 1.000 2 2003 2006
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.020 1.000 2 2015 2015
dbSNP: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.020 1.000 2 2009 2013
dbSNP: rs58542926
rs58542926
20 0.707 0.250 19 19268740 missense variant C/T snp 6.5E-02 5.8E-02 0.020 1.000 2 2015 2016
dbSNP: rs7080536
rs7080536
22 0.685 0.286 10 113588287 missense variant G/A snp 2.2E-02 2.3E-02 0.020 1.000 2 2009 2013
dbSNP: rs10336
rs10336
2 1.000 0.036 4 76001835 3 prime UTR variant A/G,T snp 0.62 0.010 1.000 1 2015 2015
dbSNP: rs10903035
rs10903035
4 0.923 0.071 1 24155450 3 prime UTR variant G/A snp 0.63 0.010 1.000 1 2014 2014
dbSNP: rs11868035
rs11868035
10 0.801 0.179 17 17811787 splice region variant G/A snp 0.45 0.34 0.010 1.000 1 2014 2014
dbSNP: rs11966728
rs11966728
2 0.923 0.071 6 131955465 intron variant T/C snp 0.25 0.010 1.000 1 2009 2009
dbSNP: rs12980275
rs12980275
11 0.769 0.143 19 39241143 intergenic variant A/G snp 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1800730
rs1800730
18 0.685 0.393 6 26090957 missense variant A/T snp 1.0E-02 1.0E-02 0.010 1.000 1 2002 2002
dbSNP: rs1800925
rs1800925
23 0.662 0.464 5 132657117 non coding transcript exon variant C/G,T snp 0.27 0.010 1.000 1 2016 2016
dbSNP: rs201593811
rs201593811
1 1.000 0.036 2 88627121 missense variant C/A,T snp 4.6E-03 5.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs20541
rs20541
29 0.638 0.607 5 132660272 missense variant A/G snp 0.72 0.75 0.010 1.000 1 2016 2016
dbSNP: rs2151532
rs2151532
1 1.000 0.036 6 131953590 intron variant G/A snp 0.88 0.010 1.000 1 2009 2009
dbSNP: rs267607117
rs267607117
2 0.923 0.036 8 93780747 missense variant G/T snp 0.010 1.000 1 2009 2009
dbSNP: rs28934571
rs28934571
14 0.744 0.179 17 7674216 missense variant C/A,G snp 0.010 1.000 1 2016 2016
dbSNP: rs3194051
rs3194051
2 0.923 0.036 5 35876172 missense variant A/G snp 0.24 0.28 0.010 1.000 1 2016 2016
dbSNP: rs3480
rs3480
3 0.923 0.107 1 32862564 3 prime UTR variant G/A snp 0.55 0.010 1.000 1 2017 2017
dbSNP: rs3732379
rs3732379
15 0.715 0.357 3 39265765 missense variant C/T snp 0.22 0.22 0.010 1.000 1 2008 2008
dbSNP: rs3921
rs3921
3 1.000 0.036 4 76021790 3 prime UTR variant C/G snp 0.61 0.010 1.000 1 2015 2015