Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
dbSNP: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. 21350584

2011
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601

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: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 22309168

2012
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: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215

2013
dbSNP: rs199472696
rs199472696
KCNQ1
T 0.700 CausalMutation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs786204395
rs786204395
PKP2
TTTC 0.700 GeneticVariation CLINVAR Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. 23168288

2013
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: 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: 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: 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: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. 24552659

2014
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.700 CausalMutation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. 26969752

2016
dbSNP: rs199472910
rs199472910
KCNH2
0.010 GeneticVariation BEFREE KCNH2 p.His492Tyr variant presented Romano-Ward syndrome in the presence of another mutation and heterozygous carriers had mild phenotypes while even heterozygous carriers should be cared for not to encounter secondary factors because incidental factors could manifest "latent" form of p.His492Tyr heterozygous carriers. 27816319

2017