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: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.050 1.000 5 2002 2017
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.040 1.000 4 1999 2007
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.040 1.000 4 2014 2019
dbSNP: rs1024323
rs1024323
GRK4
4 0.882 0.160 4 3004316 missense variant C/A;G;T snv 0.36 0.030 1.000 3 2006 2016
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.030 1.000 3 2014 2020
dbSNP: rs1801058
rs1801058
GRK4
4 0.882 0.120 4 3037423 missense variant T/C;G snv 0.62 0.030 1.000 3 2006 2016
dbSNP: rs1801483
rs1801483
GCGR
7 0.851 0.160 17 81809839 missense variant G/A snv 7.4E-03 6.3E-03 0.030 1.000 3 1998 1999
dbSNP: rs4646155
rs4646155
ACE2
3 0.925 0.080 X 15579386 intron variant C/T snv 3.9E-02 0.030 1.000 3 2018 2019
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.030 1.000 3 1999 2018
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2014 2018
dbSNP: rs879922
rs879922
ACE2
4 0.882 0.160 X 15572684 intron variant C/G snv 0.030 1.000 3 2018 2019
dbSNP: rs1012841819
rs1012841819
ADRA2B
4 0.882 0.160 2 96115728 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1037733674
rs1037733674
GCG ; LOC101929532
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.020 1.000 2 1998 1999
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2010 2011
dbSNP: rs10501367
rs10501367
APLNR
2 1.000 0.040 11 57238113 upstream gene variant T/C snv 0.73 0.020 1.000 2 2010 2016
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.020 1.000 2 2012 2013
dbSNP: rs1126742
rs1126742
CYP4A11
4 0.925 0.040 1 46932824 missense variant A/G snv 0.17 0.20 0.020 1.000 2 2008 2017
dbSNP: rs11739136
rs11739136
KCNMB1 ; KCNIP1
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.020 1.000 2 2017 2019
dbSNP: rs1212768461
rs1212768461
TSC1
2 1.000 0.040 9 132897292 missense variant T/A;C snv 1.4E-05 0.020 1.000 2 2008 2012
dbSNP: rs12720742
rs12720742
ACE
1 1.000 0.040 17 63496923 missense variant C/G;T snv 2.4E-05; 3.2E-04 0.020 1.000 2 1998 2004
dbSNP: rs1334899057
rs1334899057
SSTR4
4 0.882 0.160 20 23035908 missense variant T/C snv 7.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1462059537
rs1462059537
EDNRA
4 0.882 0.160 4 147535944 missense variant C/T snv 8.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs17249754
rs17249754
ATP2B1
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.020 1.000 2 2016 2019
dbSNP: rs1800780
rs1800780
NOS3
2 0.925 0.120 7 151001791 intron variant A/G snv 0.58 0.56 0.020 1.000 2 2013 2014
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2013 2017