Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 GeneticVariation UNIPROT Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 23994779

2013
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 GeneticVariation UNIPROT HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 21810866

2011
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		T 0.850 CausalMutation CLINVAR

dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		A 0.850 CausalMutation CLINVAR

dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit. 21854832

2011
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.770 CausalMutation CLINVAR In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity. 17984373

2007
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Phenotype reveals genotype in a Greek long QT syndrome family. 16627448

2006
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 16246960

2005
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.770 CausalMutation CLINVAR Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. 15028050

2004
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919

1999
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 10086971

1999
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.770 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919

1999
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244

1996
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C3277700
Disease: LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 1/2, DIGENIC (disorder) 		A 0.700 CausalMutation CLINVAR