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: 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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs59026483
rs59026483
LMNA
7 0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1178625972
rs1178625972
GRAP2
1 1.000 0.080 22 39966117 missense variant C/G snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs397516005
rs397516005
MYBPC3
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019
dbSNP: rs387907267
rs387907267
MYBPC3
4 0.851 0.120 11 47335120 stop gained G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.020 1.000 2 2007 2019
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