Disease: Congenital long QT syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995 2014
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing. 22727609 2013
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. 23130128 2012
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. 22456477 2012
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429 2012
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels. 19590188 2009
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Mechanisms of I(Ks) suppression in LQT1 mutants. 11087258 2000
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
dbSNP: rs199473456
rs199473456
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Low penetrance in the long-QT syndrome: clinical impact. 9927399 1999