rs59212267

This is a intron variant variant in the THRB gene.

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GWAS Catalog Trait Associations (4)

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

PR interval

Ntalla I et al. “Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.” Nature Communications 11(1):2542 (2020)
Allele G
OR 0.78
p 4.0e-27
N 271,570
Large GWAS
European

heart rate

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 5.0e-18
N 394,642
Large GWAS
European

atrial fibrillation

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 G
OR 0.06
p 2.0e-14
N 622,233
Major Consortium StudyLarge GWAS
multi-ancestry

QT interval

Hoffmann TJ et al. “A large genome-wide association study of QT interval length utilizing electronic health records.” Genetics 222(4) (2022)
Allele G
OR 0.60
p 5.0e-8
N 76,995
Large GWAS
multi-ancestry

About THRB

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]

View all THRB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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