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: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.100 0.969 196 2009 2019
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.100 0.965 113 2010 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.905 21 2011 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.100 1.000 18 2011 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.882 17 1998 2020
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.929 14 2000 2010
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.100 0.900 10 2011 2018
dbSNP: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.100 1.000 10 2012 2019
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.070 1.000 7 2009 2016
dbSNP: rs7270101
rs7270101
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.070 1.000 7 2011 2018
dbSNP: rs11881222
rs11881222
3 0.925 0.080 19 39244283 intron variant A/G snv 0.30 0.060 1.000 6 2011 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.050 1.000 5 2007 2019
dbSNP: rs8103142
rs8103142
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.050 1.000 5 2011 2015
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.040 1.000 4 2008 2018
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.040 1.000 4 2004 2019
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2013 2018
dbSNP: rs4803217
rs4803217
4 0.882 0.120 19 39243580 3 prime UTR variant C/A snv 0.39 0.040 1.000 4 2012 2017
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.040 1.000 4 2016 2019
dbSNP: rs10903035
rs10903035
2 1.000 0.080 1 24155450 3 prime UTR variant G/A snv 0.63 0.030 1.000 3 2011 2014
dbSNP: rs117648444
rs117648444
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.030 1.000 3 2017 2019
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.030 0.667 3 2011 2019
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: rs142346548
rs142346548
2 0.925 0.160 19 39244145 missense variant G/A snv 4.0E-06 0.030 1.000 3 2017 2019
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.030 1.000 3 2014 2019
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2013 2018