rs121912648

This is a stop gained variant in the TG gene.

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GWAS Catalog Trait Associations (3)

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

thyroid disease

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 C
OR 1.09
p 9.0e-16
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

thyroid disease, drug use measurement

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 C
OR 1.08
p 7.0e-14
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

hypothyroidism

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele C
OR 0.88
p 2.0e-19
N 1,786,062
Large GWAS
European
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 C
OR 1.30
p 5.0e-38
N 441,274
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Pathogenic★★★☆
13 submitters11 publications

Autoimmune thyroid disease, susceptibility to, 3; Congenital hypothyroidism; Iodotyrosyl coupling defect (TDH3); TG-related disorder

View on ClinVar →

About TG

Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]

View all TG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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