Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation 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: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 22629021

2012
dbSNP: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation 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: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
dbSNP: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125

2003
dbSNP: rs397508097
rs397508097
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 CausalMutation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100

2001