Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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: rs1553431711
rs1553431711
CALM2
A 0.700 GeneticVariation CLINVAR

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

2011
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: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595

1999
dbSNP: rs397508111
rs397508111
KCNQ1
A 0.700 CausalMutation CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423

2000
dbSNP: rs794728865
rs794728865
SCN5A
A 0.700 GeneticVariation CLINVAR

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

2013
dbSNP: rs1060502608
rs1060502608
CALM3
C 0.700 CausalMutation CLINVAR

dbSNP: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009
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: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
dbSNP: rs786204778
rs786204778
KCNQ1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553698563
rs1553698563
SCN5A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555814427
rs1555814427
CALM3
G 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: 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: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. 18508782

2008
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: rs137854601
rs137854601
SCN5A
T 0.700 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011