rs3766889

This variant is located in the RYR2 gene.

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GWAS Catalog Trait Associations (1)

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

forced expiratory volume

Wyss AB et al. “Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.” Nature Communications 9(1):2976 (2018)

Allele T

OR 52.21

p 4.0e-8

N 90,715

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

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]

View all RYR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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