Gene: KCNQ1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide. 24552659

2014
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 24912595

2014
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 22309168

2012
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601

2012
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067

2012
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 14510661

2003
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963

1999
dbSNP: rs17215500
rs17215500
KCNQ1
T 0.730 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188

1999
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome. 24666684

2015
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601

2012
dbSNP: rs397508112
rs397508112
KCNQ1
C 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: rs397508120
rs397508120
KCNQ1
C 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: rs794728565
rs794728565
KCNQ1
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: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs397508112
rs397508112
KCNQ1
C 0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
dbSNP: rs397508120
rs397508120
KCNQ1
C 0.700 GeneticVariation CLINVAR Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962

2002
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100

2001
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188

1999
dbSNP: rs397508118
rs397508118
KCNQ1
G 0.700 CausalMutation CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595

1999
dbSNP: rs786204778
rs786204778
KCNQ1
C 0.700 GeneticVariation CLINVAR