rs4074536

This is a variant in the CASQ2 gene that changes a threonine to an alanine.

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GWAS Catalog Trait Associations (4)

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

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele T
OR 1.06
p 8.0e-36
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry

atrial flutter

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.10
p 2.0e-21
N 440,917
Major Consortium StudyLarge GWAS
European

QRS duration

Prins BP et al. “Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.” Genome Biology 19(1):87 (2018)
Allele C
OR 0.31
p 2.0e-18
N 85,593
Meta-analysisLarge GWAS
multi-ancestry

left atrial function

Pirruccello JP et al. “Deep learning of left atrial structure and function provides link to atrial fibrillation risk.” Nature Communications 15(1):4304 (2024)
Allele T
OR 0.05
p 8.0e-11
N 35,049
Large GWAS
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ClinVar annotation

Likely Benign★★★☆
16 submitters7 publications

Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia (CVPT); Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2; not specified

View on ClinVar →

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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