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: rs199473457
rs199473457
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 GeneticVariation CLINVAR Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624 2004
dbSNP: rs199473457
rs199473457
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 GeneticVariation CLINVAR Sixteen members from five other R231C-positive LQT1 families were genetically tested for 21 single nucleotide polymorphisms (SNPs) to determine if the FAF family had discriminatory SNPs associated with AF. 20850564 2011
dbSNP: rs199473457
rs199473457
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 GeneticVariation CLINVAR Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. 15176425 2004
dbSNP: rs199473457
rs199473457
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 GeneticVariation CLINVAR Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel. 22613981 2012
dbSNP: rs199473457
rs199473457
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551647
Disease:
Long QT Syndrome 1 		T 0.810 GeneticVariation CLINVAR Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 19843919 2009