rs2300519

This variant is located in the TSHR gene.

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GWAS Catalog Trait Associations (2)

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

Graves disease

Cooper JD et al. “Seven newly identified loci for autoimmune thyroid disease.” Human Molecular Genetics 21(23):5202-8 (2012)

Allele A

OR 1.54

p 1.0e-38

N 11,649

Large GWAS

European

hyperthyroidism

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 0.30

p 8.0e-34

N 394,626

Large GWAS

European

About TSHR

The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

View all TSHR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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