Gene: KCNQ1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500621
rs1060500621
KCNQ1
TT 0.700 CausalMutation CLINVAR Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 27041096

2016
dbSNP: rs1060500621
rs1060500621
KCNQ1
TT 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs199472706
rs199472706
KCNQ1
T 0.700 GeneticVariation CLINVAR Molecular pathogenesis of long QT syndrome type 1. 27761162

2016
dbSNP: rs199472807
rs199472807
KCNQ1
C 0.700 GeneticVariation CLINVAR Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 27041096

2016
dbSNP: rs397508068
rs397508068
KCNQ1
C 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs397508087
rs397508087
KCNQ1
AC 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs397508133
rs397508133
KCNQ1
G 0.700 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
T 0.700 CausalMutation CLINVAR Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1. 26318259

2016
dbSNP: rs794728568
rs794728568
KCNQ1
A 0.700 GeneticVariation CLINVAR Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. 27485560

2016
dbSNP: rs794728568
rs794728568
KCNQ1
A 0.700 GeneticVariation CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016
dbSNP: rs1060500621
rs1060500621
KCNQ1
TT 0.700 CausalMutation CLINVAR QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome. 26675252

2015
dbSNP: rs1060500621
rs1060500621
KCNQ1
TT 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs120074193
rs120074193
KCNQ1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs139042529
rs139042529
KCNQ1
A 0.700 CausalMutation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015
dbSNP: rs179489
rs179489
KCNQ1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472687
rs199472687
KCNQ1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472706
rs199472706
KCNQ1
T 0.700 GeneticVariation CLINVAR Genetic analysis, in silico prediction, and family segregation in long QT syndrome. 24667783

2015
dbSNP: rs199472709
rs199472709
KCNQ1
A 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472712
rs199472712
KCNQ1
T 0.700 GeneticVariation CLINVAR Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178

2015
dbSNP: rs199472713
rs199472713
KCNQ1
T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472719
rs199472719
KCNQ1
T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472720
rs199472720
KCNQ1
A 0.700 CausalMutation CLINVAR Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. 26346102

2015
dbSNP: rs199472805
rs199472805
KCNQ1
C 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs199472805
rs199472805
KCNQ1
C 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia. 24372464

2015
dbSNP: rs199473411
rs199473411
KCNQ1
T 0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405

2015