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: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.090 1.000 9 2010 2017
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.030 1.000 3 2011 2018
dbSNP: rs11622883
rs11622883
1 1.000 0.080 14 94689439 regulatory region variant T/A snv 0.37 0.020 1.000 2 2011 2017
dbSNP: rs498055
rs498055
2 0.925 0.080 10 95595157 non coding transcript exon variant C/A;G;T snv 0.39 0.020 0.500 2 2006 2008
dbSNP: rs11190302
rs11190302
1 1.000 0.080 10 99873158 downstream gene variant C/T snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs11613092
rs11613092
1 1.000 0.080 12 118455443 intergenic variant C/T snv 7.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs12570088
rs12570088
4 0.851 0.160 10 58178575 intergenic variant A/G snv 4.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1992269
rs1992269
2 0.925 0.080 18 1872316 intron variant C/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs2279420
rs2279420
1 1.000 0.080 10 60022189 downstream gene variant A/G snv 8.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs2927438
rs2927438
6 0.925 0.080 19 44738850 intergenic variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs376465
rs376465
2 0.925 0.080 19 22158230 intergenic variant T/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs541458
rs541458
4 0.851 0.080 11 86077309 regulatory region variant C/T snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs7294919
rs7294919
4 0.851 0.080 12 116889787 regulatory region variant T/C snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs7856774
rs7856774
1 1.000 0.080 9 87110354 regulatory region variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs7908652
rs7908652
1 1.000 0.080 10 84032167 intergenic variant C/T snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs7910977
rs7910977
4 0.882 0.160 10 92450119 downstream gene variant C/T snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.030 1.000 3 2015 2020
dbSNP: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs770510230
rs770510230
1 1.000 0.080 19 1058155 stop gained G/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs4309
rs4309
ACE
3 0.925 0.120 17 63482562 synonymous variant C/T snv 0.46 0.36 0.010 1.000 1 2015 2015
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 < 0.001 1 2015 2015
dbSNP: rs754618480
rs754618480
ACE
1 1.000 0.080 17 63477951 synonymous variant C/T snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2017 2017