rs12563940

This variant is located in the CASQ2 gene.

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GWAS Catalog Trait Associations (1)

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

QRS-T angle

Young WJ et al. “Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.” Nature Communications 14(1):1411 (2023)

Allele T

OR 0.03

p 9.0e-10

N 118,780

Large GWAS

European, African unspecified, Hispanic or Latin American

About CASQ2

The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]

View all CASQ2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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