rs1805128

This is a variant in the KCNE1 gene that changes a aspartate to an asparagine.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

JT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele T
OR 0.38
p 7.0e-147
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

QT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele T
OR 0.37
p 2.0e-143
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
Arking DE et al. “Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.” Nature Genetics 46(8):826-36 (2014)
Allele T
OR 7.42
p 2.0e-18
N 71,061
Large GWAS
European
van Duijvenboden S et al. “Genetic Basis and Prognostic Value of Exercise QT Dynamics.” Circulation. Genomic and Precision Medicine 13(4):e002774 (2020)
Allele T
OR 0.18
p 5.0e-16
N 52,861
Large GWAS
European
van Setten J et al. “Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.” European Journal of Human Genetics : Ejhg 27(6):952-962 (2019)
Allele T
OR 7.41
p 3.0e-15
N 26,794
Meta-analysisLarge GWAS
multi-ancestry
van Duijvenboden S et al. “Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders.” Human Molecular Genetics 30(24):2513-2523 (2021)
Allele T
OR 0.21
p 7.0e-17
N 24,495
Large GWAS
European

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele C
OR 0.22
p 2.0e-20
N 63,706
Major Consortium StudyLarge GWAS
European, NR
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ClinVar annotation

Pathogenic★★★☆
22 submitters42 publications

Cardiomyopathy (CMYO); Cardiovascular phenotype; Congenital long QT syndrome (RWS); Jervell and Lange-Nielsen syndrome 2 (JLNS2); Long QT syndrome (LQTS); Long QT syndrome 2/5, digenic (LQT2/5, DIGENIC); Long QT syndrome 5 (LQT5); Long QT syndrome 5, acquired, susceptibility to; not specified

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About KCNE1

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

View all KCNE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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