rs199473411, KCNQ1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 CausalMutation CLINVAR
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Evidence of a long QT founder gene with varying phenotypic expression in South African families. 8818942 1996
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. 9323054 1997
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006 1997
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136 1997
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. 9272155 1997
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT A recessive variant of the Romano-Ward long-QT syndrome? 9641694 1998
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. 9482580 1998
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. 9570196 1998
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. 10220146 1999
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. 10367071 1999
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642 2004
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642 2004
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. 16556865 2006