rs3807375

This variant is located in the KCNH2 gene.

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GWAS Catalog Trait Associations (1)

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 1.22

p 3.0e-33

N 71,061

Large GWAS

European

Holm H et al. “Several common variants modulate heart rate, PR interval and QRS duration.” Nature Genetics 42(2):117-22 (2010)

Allele T

OR 11.95

p 5.0e-11

N 12,670

Large GWAS

European

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]

View all KCNH2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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