rs2072412

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.

T wave morphology measurement

Ramírez J et al. “Cardiovascular Predictive Value and Genetic Basis of Ventricular Repolarization Dynamics.” Circulation. Arrhythmia and Electrophysiology 12(10):e007549 (2019)

Allele C

OR 0.04

p 1.0e-11

N 51,574

Large GWAS

European

QT interval

van Duijvenboden S et al. “Genetic Basis and Prognostic Value of Exercise QT Dynamics.” Circulation. Genomic and Precision Medicine 13(4):e002774 (2020)

Allele C

OR 0.04

p 2.0e-9

N 52,861

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]