Gene: KCNQ1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720459
rs12720459
KCNQ1
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
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
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
0.850 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs12720459
rs12720459
KCNQ1
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: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178

2015
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036

1998
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT A molecular mechanism for adrenergic-induced long QT syndrome. 24184248

2014
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 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: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276

2002
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT A recessive variant of the Romano-Ward long-QT syndrome? 9641694

1998
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. 9482580

1998
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942

1996
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. 9570196

1998
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. 10367071

1999
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. 21241800

2011
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498

2009
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006

1997
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054

1997
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. 10220146

1999
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683

2008
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136

1997
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724

2006
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155

1997
dbSNP: rs120074178
rs120074178
KCNQ1
0.810 GeneticVariation UNIPROT Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944

2005