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: rs869312687
rs869312687
RIT1
8 0.925 0.080 1 155910695 missense variant T/G snv 0.700 0
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: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2012 2012
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2019 2019
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: rs17168525
rs17168525
MTPN ; LUZP6
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: rs9594782
rs9594782
TNFSF11
1 1.000 0.080 13 42577050 intron variant T/C snv 4.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs17132261
rs17132261
TMEM232
2 1.000 0.080 5 110672513 intron variant C/T snv 4.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs10500279
rs10500279
RYR1
1 1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs1436109
rs1436109
NCAM1
3 1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02 0.700 1.000 1 2011 2011
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: 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: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2014 2014
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs2071090
rs2071090
RYR1
1 1.000 0.080 19 38524814 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
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: rs2960321
rs2960321
RYR1
1 1.000 0.080 19 38557523 intron variant C/A snv 0.18 0.700 1.000 1 2012 2012
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: 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: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2014 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2018 2018
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: 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: 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