Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17215500
rs17215500
T 0.700 CausalMutation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015

dbSNP: rs17215500
rs17215500
T 0.700 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
T 0.700 CausalMutation CLINVAR Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. 24552659

2014

dbSNP: rs199472696
rs199472696
T 0.700 CausalMutation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013

dbSNP: rs17215500
rs17215500
T 0.700 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601

2012

dbSNP: rs17215500
rs17215500
T 0.700 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
T 0.700 CausalMutation CLINVAR Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 22309168

2012

dbSNP: rs397508111
rs397508111
A 0.700 CausalMutation CLINVAR End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 22429796

2012

dbSNP: rs397508111
rs397508111
A 0.700 CausalMutation CLINVAR Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. 21350584

2011

dbSNP: rs199472696
rs199472696
T 0.700 CausalMutation CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648

2010

dbSNP: rs397508112
rs397508112
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
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: rs199472696
rs199472696
T 0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005

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

2004

dbSNP: rs17215500
rs17215500
T 0.700 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: rs199472696
rs199472696
T 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000

dbSNP: rs397508111
rs397508111
A 0.700 CausalMutation CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423

2000

dbSNP: rs17215500
rs17215500
T 0.700 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188

1999

dbSNP: rs17215500
rs17215500
T 0.700 CausalMutation CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963

1999

dbSNP: rs397508111
rs397508111
A 0.700 CausalMutation CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595

1999

dbSNP: rs199472696
rs199472696
T 0.700 CausalMutation CLINVAR KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. 9386136

1997

dbSNP: rs199472696
rs199472696
T 0.700 CausalMutation CLINVAR Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. 9312006

1997

dbSNP: rs786204778
rs786204778
C 0.700 GeneticVariation CLINVAR