rs2072413

This variant is located in the KCNH2 gene.

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GWAS Catalog Trait Associations (2)

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

QT interval

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 1.68

p 1.0e-49

N 71,061

Large GWAS

European

chronotype measurement

Jones SE et al. “Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.” Nature Communications 10(1):343 (2019)

Allele C

OR 1.02

p 5.0e-8

N 449,734

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About KCNH2

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]