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: rs16851720
rs16851720
3 0.878 0.071 3 141744456 intron variant A/C snp 0.21 0.800 1 2013 2013
dbSNP: rs2629751
rs2629751
2 0.923 0.071 12 104028030 intron variant A/G snp 0.35 0.800 1 2013 2013
dbSNP: rs4374383
rs4374383
5 0.846 0.107 2 112013193 intron variant A/G snp 0.58 0.800 1 2013 2013
dbSNP: rs9380516
rs9380516
2 0.923 0.071 6 35534425 intergenic variant T/C snp 0.85 0.800 1 2013 2013
dbSNP: rs11790131
rs11790131
2 0.923 0.071 9 19469848 intergenic variant G/A,T snp 0.17 0.700 1 2017 2017
dbSNP: rs143633948
rs143633948
2 0.923 0.071 6 131504454 intergenic variant G/A,C snp 4.3E-02 0.700 1 2017 2017
dbSNP: rs35467001
rs35467001
2 0.923 0.071 17 73383923 missense variant G/A snp 5.3E-02 5.9E-02 0.700 1 2017 2017
dbSNP: rs35897606
rs35897606
2 0.923 0.071 11 33436311 A/G snp 4.0E-02 0.700 1 2017 2017
dbSNP: rs73084982
rs73084982
2 0.923 0.071 20 3430406 regulatory region variant G/A snp 3.1E-02 0.700 1 2017 2017
dbSNP: rs73132848
rs73132848
2 0.923 0.071 3 8764738 intron variant G/A snp 8.8E-02 0.700 1 2017 2017
dbSNP: rs79709413
rs79709413
2 0.923 0.071 13 24740488 intergenic variant G/T snp 4.3E-02 0.700 1 2017 2017
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.100 0.962 53 2009 2018
dbSNP: rs8099917
rs8099917
38 0.618 0.464 19 39252525 intergenic variant T/G snp 0.15 0.100 1.000 21 2010 2016
dbSNP: rs738409
rs738409
55 0.590 0.536 22 43928847 missense variant C/G snp 0.28 0.22 0.070 0.714 7 2012 2016
dbSNP: rs368234815
rs368234815
9 0.769 0.143 19 39248514 frameshift variant CTT/C,CG in-del 0.050 1.000 5 2015 2016
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.040 1.000 4 2005 2008
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.040 1.000 4 2000 2008
dbSNP: rs2596542
rs2596542
10 0.756 0.143 6 31398818 intergenic variant C/T snp 0.38 0.040 1.000 4 2013 2014
dbSNP: rs1127354
rs1127354
21 0.685 0.321 20 3213196 missense variant C/A,G snp 7.5E-02 7.0E-02 0.030 1.000 3 2011 2017
dbSNP: rs11881222
rs11881222
4 0.923 0.071 19 39244283 intron variant A/G snp 0.29 0.030 1.000 3 2013 2015
dbSNP: rs12980275
rs12980275
11 0.769 0.143 19 39241143 intergenic variant A/G snp 0.35 0.030 1.000 3 2014 2016
dbSNP: rs7270101
rs7270101
8 0.784 0.143 20 3213247 intron variant A/C snp 8.7E-02 9.6E-02 0.030 1.000 3 2012 2017
dbSNP: rs1799864
rs1799864
39 0.626 0.536 3 46357717 missense variant G/A snp 0.13 0.12 0.020 0.500 2 2004 2007
dbSNP: rs2287622
rs2287622
16 0.707 0.179 2 168973818 missense variant A/C,G,T snp 0.57 0.57 0.020 1.000 2 2011 2017
dbSNP: rs8103142
rs8103142
4 0.923 0.071 19 39244466 missense variant T/C snp 0.29 0.39 0.020 1.000 2 2015 2016