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: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2010 2017
dbSNP: rs10127939
rs10127939
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1635564
rs1635564
2 0.925 0.160 1 17357031 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2298804
rs2298804
4 0.851 0.240 1 159304102 missense variant A/G;T snv 6.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs28940579
rs28940579
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs329498
rs329498
3 0.882 0.200 2 64100410 synonymous variant G/A;C;T snv 8.0E-06; 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs601162
rs601162
2 0.925 0.160 9 29632144 upstream gene variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs6697139
rs6697139
2 0.925 0.160 1 161690906 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7692514
rs7692514
2 0.925 0.160 4 65276878 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs8193037
rs8193037
12 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs958476
rs958476
2 0.925 0.160 11 129451923 3 prime UTR variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs114580964
rs114580964
1 1.000 0.160 6 31636736 missense variant C/A;T snv 3.4E-03 1.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs17008504
rs17008504
1 1.000 0.160 4 124718662 intergenic variant T/A snv 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs11057864
rs11057864
2 0.925 0.160 12 124851404 intron variant C/A snv 6.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs6056923
rs6056923
1 1.000 0.160 20 9840271 intron variant T/C snv 0.10 0.010 1.000 1 2015 2015