Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405 2015
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. 24818999 2014
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Long-term follow-up of a pediatric cohort with short QT syndrome. 23375927 2013
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Selective targeting of gain-of-function KCNQ1 mutations predisposing to atrial fibrillation. 24006450 2013
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300 2009
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels. 18599533 2008
dbSNP: rs199472687
rs199472687
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. 16109388 2005