Disease: Long QT Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.850 GeneticVariation BEFREE Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant. 25585005 2015
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		A 0.850 CausalMutation CLINVAR
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.850 GeneticVariation BEFREE Does pregnancy increase cardiac risk for LQT1 patients with the KCNQ1-A341V mutation? 17010804 2006
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.850 GeneticVariation BEFREE The study assesses complexity of the cardiac control directed to the sinus node and to ventricles in long QT syndrome type 1 (LQT1) patients with KCNQ1-A341V mutation. 24705789 2014
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.850 GeneticVariation BEFREE Seventy-eight patients, all with a single KCNQ1-A341V mutation, from 21 families and 8 countries were compared with 166 SA patients with A341V and with 205 non-A341V LQT1 patients. 17984373 2007
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.850 GeneticVariation BEFREE This study also unexpectedly determined that KCNQ1-A341V is associated with greater risk than that reported for large databases of LQT1 patients: A341V MCs are more symptomatic by age 40 years (79% versus 30%) and become symptomatic earlier (7+/-4 versus 13+/-9 years, both P<0.001). 16246960 2005
dbSNP: rs12720459
rs12720459
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.850 CausalMutation CLINVAR
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. 18165683 2008
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. 9570196 1998
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT A molecular mechanism for adrenergic-induced long QT syndrome. 24184248 2014
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		A 0.810 CausalMutation CLINVAR
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation BEFREE We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene. 20660394 2010
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		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
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 CausalMutation CLINVAR
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136 1997
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996
dbSNP: rs120074178
rs120074178
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		0.810 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998