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: rs3869062
rs3869062
1 1.000 0.120 6 29967114 downstream gene variant A/G snv 5.5E-02 0.720 1.000 5 2009 2017
dbSNP: rs2517713
rs2517713
2 1.000 0.120 6 29950322 downstream gene variant G/A;T snv 0.710 1.000 4 2009 2015
dbSNP: rs9510787
rs9510787
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.730 1.000 4 2010 2018
dbSNP: rs2860580
rs2860580
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.720 1.000 3 2010 2017
dbSNP: rs3129055
rs3129055
2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.720 1.000 3 2009 2017
dbSNP: rs5009448
rs5009448
1 1.000 0.120 6 29972711 upstream gene variant T/C snv 0.74 0.700 1.000 3 2009 2012
dbSNP: rs9260734
rs9260734
1 1.000 0.120 6 29964889 intergenic variant G/A snv 0.22 0.700 1.000 3 2009 2012
dbSNP: rs16896923
rs16896923
1 1.000 0.120 6 30032910 non coding transcript exon variant T/C snv 5.0E-02 0.710 1.000 2 2010 2017
dbSNP: rs189897
rs189897
2 1.000 0.120 3 37477054 intron variant T/A snv 0.13 0.710 1.000 2 2009 2010
dbSNP: rs2752903
rs2752903
1 1.000 0.120 20 33235584 upstream gene variant T/C;G snv 0.33 0.020 1.000 2 2012 2017
dbSNP: rs28421666
rs28421666
2 1.000 0.120 6 32624960 upstream gene variant A/G snv 6.9E-02 0.710 1.000 2 2010 2017
dbSNP: rs3131866
rs3131866
1 1.000 0.120 6 29703963 downstream gene variant G/A snv 0.24 0.700 1.000 2 2009 2010
dbSNP: rs417162
rs417162
2 1.000 0.120 6 29948728 downstream gene variant C/T snv 0.66 0.700 1.000 2 2009 2012
dbSNP: rs9258122
rs9258122
1 1.000 0.120 6 29703963 downstream gene variant G/A snv 0.020 1.000 2 2009 2018
dbSNP: rs10163267
rs10163267
1 1.000 0.120 16 83940313 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10496040
rs10496040
1 1.000 0.120 2 55080510 5 prime UTR variant C/A snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1059449
rs1059449
1 1.000 0.120 6 29942921 missense variant G/A snv 6.1E-02 9.0E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs11158728
rs11158728
1 1.000 0.120 14 68295488 intron variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs11237828
rs11237828
1 1.000 0.120 11 79422176 mature miRNA variant T/C snv 0.12 0.22 0.010 1.000 1 2015 2015
dbSNP: rs115214213
rs115214213
1 1.000 0.120 11 35231896 3 prime UTR variant T/C snv 4.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs117465650
rs117465650
1 1.000 0.120 2 55050090 missense variant C/T snv 0.12 6.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs117565607
rs117565607
1 1.000 0.120 6 30204594 intron variant T/A snv 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs11865086
rs11865086
1 1.000 0.120 16 30119172 intron variant C/A snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs13299349
rs13299349
1 1.000 0.120 9 18573362 mature miRNA variant G/A snv 0.32 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1373589952
rs1373589952
1 1.000 0.120 1 206772296 missense variant G/A snv 7.0E-06 0.010 1.000 1 2012 2012