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
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 1.000 0.877 83 2004 2017
dbSNP: rs7574865
rs7574865
36 0.618 0.571 2 191099907 intron variant T/G snp 0.79 0.900 0.952 24 2007 2016
dbSNP: rs3761847
rs3761847
5 0.878 0.179 9 120927961 5 prime UTR variant G/A snp 0.51 0.880 0.875 12 2007 2015
dbSNP: rs6920220
rs6920220
11 0.756 0.250 6 137685367 intron variant G/A snp 0.16 0.860 1.000 10 2007 2014
dbSNP: rs10499194
rs10499194
7 0.784 0.321 6 137681500 intron variant C/T snp 0.22 0.860 1.000 6 2007 2014
dbSNP: rs2228145
rs2228145
32 0.647 0.500 1 154454494 missense variant A/C,T snp 0.38; 1.2E-05 0.30 0.840 1.000 6 2010 2014
dbSNP: rs3087243
rs3087243
19 0.715 0.357 2 203874196 intergenic variant G/A snp 0.35 0.830 1.000 7 2008 2014
dbSNP: rs4810485
rs4810485
8 0.784 0.321 20 46119308 intron variant T/A,G snp 0.79 0.830 1.000 6 2008 2016
dbSNP: rs26232
rs26232
3 0.923 0.143 5 103261019 intron variant C/T snp 0.30 0.830 1.000 5 2010 2016
dbSNP: rs2075876
rs2075876
1 1.000 0.107 21 44289270 non coding transcript exon variant G/A snp 0.19 0.830 1.000 3 2011 2015
dbSNP: rs874040
rs874040
3 0.923 0.143 4 26106575 intergenic variant G/C snp 0.29 0.820 1.000 5 2010 2016
dbSNP: rs10488631
rs10488631
9 0.769 0.179 7 128954129 intergenic variant T/C snp 9.6E-02 0.820 1.000 4 2010 2016
dbSNP: rs2872507
rs2872507
9 0.769 0.214 17 39884510 intergenic variant G/A,T snp 0.39 0.820 1.000 4 2010 2013
dbSNP: rs2233434
rs2233434
1 1.000 0.107 6 44265183 missense variant A/G snp 4.9E-02 5.5E-02 0.820 1.000 3 2012 2013
dbSNP: rs2736340
rs2736340
11 0.756 0.286 8 11486464 regulatory region variant C/T snp 0.25 0.820 1.000 3 2009 2017
dbSNP: rs3093024
rs3093024
1 1.000 0.107 6 167119305 non coding transcript exon variant A/G snp 0.60 0.820 1.000 3 2010 2014
dbSNP: rs805297
rs805297
2 0.923 0.179 6 31654829 intron variant C/A snp 0.24 0.820 1.000 3 2011 2014
dbSNP: rs6457617
rs6457617
10 0.756 0.393 6 32696074 intergenic variant C/A,T snp 0.52 0.810 1.000 5 2007 2011
dbSNP: rs3093023
rs3093023
6 0.846 0.143 6 167120802 intron variant G/A snp 0.35 0.810 1.000 4 2010 2014
dbSNP: rs660895
rs660895
6 0.801 0.286 6 32609603 intron variant A/G snp 0.19 0.810 1.000 4 2007 2014
dbSNP: rs13031237
rs13031237
REL
3 0.923 0.107 2 60908994 intron variant G/T snp 0.26 0.810 1.000 3 2009 2013
dbSNP: rs1678542
rs1678542
2 1.000 0.107 12 57574932 intron variant C/G snp 0.44 0.810 1.000 3 2008 2014
dbSNP: rs1980422
rs1980422
4 0.846 0.214 2 203745673 intergenic variant C/A,T snp 0.79 0.810 1.000 3 2013 2016
dbSNP: rs2812378
rs2812378
8 0.784 0.179 9 34710263 intergenic variant G/A,C snp 0.67 0.810 < 0.001 3 2008 2016
dbSNP: rs34536443
rs34536443
15 0.724 0.286 19 10352442 missense variant G/C snp 2.7E-02 2.8E-02 0.810 < 0.001 3 2013 2016