Gene: KCNQ1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074193
rs120074193
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: rs120074193
rs120074193
KCNQ1
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs199472755
rs199472755
KCNQ1
0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
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: rs120074191
rs120074191
KCNQ1
0.810 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: rs120074191
rs120074191
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. 21241800

2011
dbSNP: rs120074193
rs120074193
KCNQ1
0.810 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: rs120074193
rs120074193
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. 21241800

2011
dbSNP: rs199472755
rs199472755
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. 21241800

2011
dbSNP: rs199472755
rs199472755
KCNQ1
0.810 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: rs199472804
rs199472804
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. 21241800

2011
dbSNP: rs199473457
rs199473457
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: rs120074191
rs120074191
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498

2009
dbSNP: rs120074193
rs120074193
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498

2009
dbSNP: rs199472755
rs199472755
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498

2009
dbSNP: rs199472804
rs199472804
KCNQ1
0.810 GeneticVariation UNIPROT Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. 19808498

2009
dbSNP: rs199473457
rs199473457
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 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683

2008
dbSNP: rs120074191
rs120074191
KCNQ1
0.810 GeneticVariation UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683

2008
dbSNP: rs120074193
rs120074193
KCNQ1
0.810 GeneticVariation UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683

2008
dbSNP: rs199472755
rs199472755
KCNQ1
0.810 GeneticVariation UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683

2008
dbSNP: rs199472804
rs199472804
KCNQ1
0.810 GeneticVariation UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683

2008
dbSNP: rs199473457
rs199473457
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 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724

2006