Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555843953
rs1555843953
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation 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: rs1555843953
rs1555843953
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. 24561134

2014
dbSNP: rs1555843953
rs1555843953
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		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: rs1555843953
rs1555843953
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165

1998
dbSNP: rs1555843953
rs1555843953
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
dbSNP: rs1555843953
rs1555843953
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.700 GeneticVariation CLINVAR Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 9354802

1997