Source: ALL
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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.050 1.000 5 1999 2003
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: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
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: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2074192
rs2074192
ACE2
9 0.827 0.160 X 15564667 intron variant C/T snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs755492182
rs755492182
ACTN2
3 0.882 0.080 1 236735677 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.030 1.000 3 2008 2014
dbSNP: rs1801252
rs1801252
ADRB1
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2014 2014
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs1800888
rs1800888
ADRB2
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1999 2007
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.030 1.000 3 1996 2007
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1050606
rs1050606
ANXA5
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs238234
rs238234
CAMTA2
1 1.000 0.080 17 4980523 missense variant C/A;G;T snv 5.6E-05; 0.75; 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 < 0.001 1 2009 2009
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2278239
rs2278239
CMYA5
1 1.000 0.080 5 79737483 missense variant A/C;G snv 0.14; 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1974201
rs1974201
ENPP1
1 1.000 0.080 6 131889981 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs9402349
rs9402349
ENPP1
1 1.000 0.080 6 131863968 intron variant A/C snv 9.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
3 0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.010 1.000 1 2018 2018