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: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.850 1.000 6 2008 2017
dbSNP: rs72556554
rs72556554
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.730 1.000 6 2007 2013
dbSNP: rs729302
rs729302
6 0.827 0.160 7 128928906 intergenic variant A/C snv 0.28 0.820 1.000 6 2008 2013
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.740 1.000 6 2008 2017
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.730 1.000 6 2009 2018
dbSNP: rs9271366
rs9271366
9 0.807 0.240 6 32619077 intergenic variant G/A snv 0.86 0.840 1.000 6 2009 2019
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.050 1.000 5 2008 2013
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.710 1.000 5 2015 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 0.800 5 2009 2016
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.810 1.000 5 2008 2017
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.050 0.400 5 2012 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 0.800 5 2011 2017
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.800 1.000 5 2009 2016
dbSNP: rs4963128
rs4963128
3 0.882 0.120 11 589564 intron variant T/C snv 0.64 0.830 1.000 5 2008 2012
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.050 0.800 5 2004 2016
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.050 0.600 5 2007 2017
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.050 0.800 5 2007 2017
dbSNP: rs6568431
rs6568431
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.800 1.000 5 2008 2017
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.050 1.000 5 2010 2018
dbSNP: rs9888739
rs9888739
3 0.882 0.120 16 31301932 intron variant C/T snv 0.26 0.810 1.000 5 2008 2014
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.730 1.000 4 2011 2016
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.040 1.000 4 2000 2009
dbSNP: rs1143683
rs1143683
1 1.000 0.080 16 31325567 missense variant C/T snv 0.16 0.16 0.730 1.000 4 2009 2013
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.040 1.000 4 2007 2019
dbSNP: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.040 1.000 4 2015 2019