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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 1.000 0.877 81 2005 2019
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.966 29 2007 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.964 28 2001 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.905 21 2004 2018
dbSNP: rs6920220
rs6920220
14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.900 0.938 16 2007 2019
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.100 0.714 14 2010 2019
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.100 0.833 12 2011 2019
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.850 0.818 11 2008 2019
dbSNP: rs3761847
rs3761847
8 0.827 0.200 9 120927961 intron variant G/A snv 0.52 0.870 0.909 11 2007 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.100 0.545 11 2004 2015
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.100 0.909 11 2004 2019
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.090 1.000 9 2008 2014
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.790 1.000 9 2007 2014
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.850 0.889 9 2010 2019
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.880 1.000 8 2007 2016
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.080 1.000 8 2010 2017
dbSNP: rs3087456
rs3087456
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.780 0.625 8 2006 2012
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.770 1.000 8 2007 2020
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.080 0.875 8 2009 2017
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.070 1.000 7 2004 2015
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.070 0.714 7 2009 2020
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.070 0.857 7 2011 2019
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.070 0.714 7 2007 2018
dbSNP: rs2240340
rs2240340
1 1.000 0.120 1 17336144 intron variant T/C snv 0.56 0.54 0.770 1.000 7 2008 2017
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.070 0.857 7 2015 2020