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: rs10500279
rs10500279
1 1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs1050606
rs1050606
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs121908596
rs121908596
7 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1277204441
rs1277204441
ACE
2 0.925 0.080 17 63479775 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 < 0.001 1 2009 2009
dbSNP: rs1349963459
rs1349963459
2 0.925 0.080 14 73170901 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1436109
rs1436109
3 1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs17132261
rs17132261
2 1.000 0.080 5 110672513 intron variant C/T snv 4.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs17168525
rs17168525
1 1.000 0.080 7 135928514 3 prime UTR variant G/A snv 1.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs1799998
rs1799998
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1957757
rs1957757
1 1.000 0.080 14 61730230 intron variant T/C snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs1974201
rs1974201
1 1.000 0.080 6 131889981 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2071090
rs2071090
1 1.000 0.080 19 38524814 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2074192
rs2074192
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs2106809
rs2106809
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2292462
rs2292462
NMB
2 1.000 0.080 15 84657523 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2960321
rs2960321
1 1.000 0.080 19 38557523 intron variant C/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs4129218
rs4129218
1 1.000 0.080 12 65564881 intron variant G/A snv 0.70 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 1.000 1 2017 2017
dbSNP: rs4966014
rs4966014
3 0.882 0.200 15 98704789 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs5068
rs5068
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs59026483
rs59026483
7 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs75404003
rs75404003
1 1.000 0.080 18 62361277 intron variant C/- delins 0.010 1.000 1 2017 2017
dbSNP: rs755492182
rs755492182
3 0.882 0.080 1 236735677 missense variant C/T snv 0.010 1.000 1 2019 2019