Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344631
rs151344631
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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: rs199472990
rs199472990
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. 29431731

2018
dbSNP: rs199472958
rs199472958
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR Wearable cardioverter defibrillators for patients with long QT syndrome. 30041777

2018
dbSNP: rs120074190
rs120074190
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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: rs794728469
rs794728469
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		G 0.700 CausalMutation CLINVAR Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 28449774

2017
dbSNP: rs761863251
rs761863251
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		TG 0.700 CausalMutation CLINVAR Tbx20 controls the expression of the KCNH2 gene and of hERG channels. 28049825

2017
dbSNP: rs199473487
rs199473487
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		G 0.700 GeneticVariation CLINVAR Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. 28087566

2017
dbSNP: rs199472958
rs199472958
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 28449774

2017
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 GeneticVariation CLINVAR CAV3 mutation in a patient with transient hyperCKemia and myalgia. 27772553

2017
dbSNP: rs151344631
rs151344631
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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: rs9333649
rs9333649
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.720 CausalMutation CLINVAR M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells. 27803431

2016
dbSNP: rs79891110
rs79891110
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
dbSNP: rs199473480
rs199473480
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.710 GeneticVariation CLINVAR Probability of diagnosing long QT syndrome in children and adolescents according to the criteria of the HRS/EHRA/APHRS expert consensus statement. 27026747

2016
dbSNP: rs199472756
rs199472756
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.710 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs794728568
rs794728568
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 GeneticVariation CLINVAR Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. 27485560

2016
dbSNP: rs794728568
rs794728568
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 GeneticVariation CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016
dbSNP: rs794728478
rs794728478
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. 26318259

2016
dbSNP: rs748706373
rs748706373
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		C 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs587782933
rs587782933
CACNA1C
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
dbSNP: rs397508133
rs397508133
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		G 0.700 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs397508087
rs397508087
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		AC 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs397508068
rs397508068
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		C 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs199473421
rs199473421
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. 26496715

2016
dbSNP: rs199473005
rs199473005
KCNH2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016