Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805128
rs1805128
T 0.750 SusceptibilityMutation CLINVAR Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 14661677

2003

dbSNP: rs1805128
rs1805128
T 0.750 SusceptibilityMutation CLINVAR Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. 10807545

2000

dbSNP: rs1805128
rs1805128
T 0.750 GeneticVariation CLINVAR

dbSNP: rs151344631
rs151344631
A 0.730 CausalMutation CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053

2018

dbSNP: rs120074190
rs120074190
A 0.730 CausalMutation CLINVAR One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs. 28619993

2017

dbSNP: rs120074190
rs120074190
0.730 GeneticVariation BEFREE One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs. 28619993

2017

dbSNP: rs151344631
rs151344631
0.730 GeneticVariation BEFREE We examined the role of a novel synonymous <i>KCNQ1</i> p.L353L variant on the splicing of exon 8 and on heart rate corrected QT interval (QTc) in a population known to have a pathogenic LQTS type 1 (LQTS1) causative mutation, p.V205M, in <i>KCNQ1</i>-encoded Kv7.1. 28264985

2017

dbSNP: rs151344631
rs151344631
A 0.730 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016

dbSNP: rs120074190
rs120074190
A 0.730 CausalMutation CLINVAR LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms. 25344363

2014

dbSNP: rs151344631
rs151344631
0.730 GeneticVariation BEFREE Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS. 23844633

2014

dbSNP: rs151344631
rs151344631
A 0.730 CausalMutation CLINVAR Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS. 23844633

2014

dbSNP: rs151344631
rs151344631
A 0.730 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013

dbSNP: rs28928905
rs28928905
T 0.730 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013

dbSNP: rs120074190
rs120074190
A 0.730 CausalMutation CLINVAR Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1. 22095730

2012

dbSNP: rs120074190
rs120074190
A 0.730 CausalMutation CLINVAR Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 22629021

2012

dbSNP: rs120074190
rs120074190
A 0.730 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012

dbSNP: rs120074190
rs120074190
0.730 GeneticVariation BEFREE We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A>G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88). 21244686

2011

dbSNP: rs120074190
rs120074190
A 0.730 CausalMutation CLINVAR A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome. 20659946

2010

dbSNP: rs28928905
rs28928905
T 0.730 CausalMutation CLINVAR Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. 20975234

2010

dbSNP: rs120074190
rs120074190
A 0.730 CausalMutation CLINVAR High prevalence of four long QT syndrome founder mutations in the Finnish population. 19160088

2009

dbSNP: rs151344631
rs151344631
0.730 GeneticVariation BEFREE A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. 18580685

2008

dbSNP: rs151344631
rs151344631
A 0.730 CausalMutation CLINVAR A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. 18580685

2008

dbSNP: rs28928905
rs28928905
T 0.730 CausalMutation CLINVAR Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2. 18808722

2008

dbSNP: rs28928905
rs28928905
0.730 GeneticVariation BEFREE Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2. 18808722

2008

dbSNP: rs28928905
rs28928905
0.730 GeneticVariation BEFREE A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome. 17560885

2007