Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691762
rs1131691762
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		TA 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: rs1131691762
rs1131691762
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		TA 0.700 GeneticVariation CLINVAR Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. 24400172

2013
dbSNP: rs1131691762
rs1131691762
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		TA 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: rs1131691762
rs1131691762
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		TA 0.700 GeneticVariation CLINVAR Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 9354802

1997