rs12101261
This is a downstream gene variant variant in the TSHR gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Graves disease
Chu X et al. “A genome-wide association study identifies two new risk loci for Graves' disease.” Nature Genetics 43(9):897-901 (2011)
Allele T
OR 1.35
p 7.0e-24
N 2,958
Large GWAS
East Asian
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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