rs34967813

This is a variant in the RYR2 gene that changes a glutamine to an arginine.

▶

GWAS Catalog Trait Associations (3)

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

beverage consumption measurement

Cole JB et al. “Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.” Nature Communications 11(1):1467 (2020)

Allele A

OR 0.02

p 2.0e-11

N 445,965

Major Consortium StudyLarge GWAS

European

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 A

OR 0.03

p 6.0e-10

N 118,780

Large GWAS

European, African unspecified, Hispanic or Latin American

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)

Allele G

OR 0.01

p 7.0e-14

N 2,669,029

Large GWAS

European

▶

ClinVar annotation

Likely Benign★★★☆

19 submitters4 publications

Arrhythmogenic right ventricular dysplasia 2; Cardiomyopathy (CMYO); Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia (CVPT); Catecholaminergic polymorphic ventricular tachycardia 1; not specified

View on ClinVar →

About RYR2

This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]