Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502608
rs1060502608
CALM3
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553431711
rs1553431711
CALM2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553698563
rs1553698563
SCN5A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555814427
rs1555814427
CALM3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs786204778
rs786204778
KCNQ1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs794728865
rs794728865
SCN5A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs199473073
rs199473073
SCN5A
G 0.700 GeneticVariation CLINVAR A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease. 20564468

2010
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms. 24958779

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215

2013
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 24912595

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
dbSNP: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718

2013
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
dbSNP: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. 23168288

2013
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 22429796

2012
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs28928905
rs28928905
KCNH2
0.010 GeneticVariation BEFREE In conclusion, the Ala490Pro mutation of the human ether-a-go-go-related gene is a rare, novel mutation that was inherited in this family, leading to Romano-Ward syndrome with complete penetrance. 17560885

2007
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188

1999