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: rs1362858
rs1362858
2 0.925 0.040 18 35406636 upstream gene variant C/A snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs7702187
rs7702187
2 0.925 0.040 5 9332169 intron variant T/A snv 0.70 0.010 1.000 1 2006 2006
dbSNP: rs356182
rs356182
3 0.882 0.080 4 89704960 intron variant G/A snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs947211
rs947211
3 0.925 0.040 1 205783537 non coding transcript exon variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs10788972
rs10788972
2 0.925 0.040 1 54106570 intron variant C/A snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.020 1.000 2 2013 2017
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
dbSNP: rs10746953
rs10746953
2 0.925 0.040 9 74302924 regulatory region variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs6812193
rs6812193
3 0.882 0.080 4 76277833 intron variant C/T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2018 2018
dbSNP: rs12046178
rs12046178
1 1.000 0.040 1 54106502 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs6692804
rs6692804
1 1.000 0.040 1 109566120 intron variant G/A snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs9652490
rs9652490
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2015 2016
dbSNP: rs9323124
rs9323124
2 0.925 0.040 14 46996974 non coding transcript exon variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2010 2010
dbSNP: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.060 0.833 6 2001 2011
dbSNP: rs7669
rs7669
2 0.925 0.040 13 27435714 missense variant G/A;C snv 0.15 0.15 0.010 1.000 1 2007 2007
dbSNP: rs66737902
rs66737902
2 0.925 0.040 12 40367861 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1559085
rs1559085
2 0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs11186
rs11186
2 0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs3827336
rs3827336
1 1.000 0.040 22 32625012 intron variant C/G snv 9.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs1879553
rs1879553
2 0.925 0.040 3 118896616 downstream gene variant A/G snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 1999 1999