rs142698837

This is a variant in the TG gene that changes a glycine to an serine.

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GWAS Catalog Trait Associations (4)

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

nodular goiter

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 A
OR 1.06
p 9.0e-48
N 2,460,445
Large GWAS
multi-ancestry

Toxic Nodular Goiter

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 1.16
p 3.0e-31
N 625,854
Major Consortium StudyLarge GWAS
multi-ancestry

nontoxic goiter

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 1.18
p 4.0e-22
N 446,122
Major Consortium StudyLarge GWAS
European

thyroid carcinoma

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 A
OR 1.08
p 3.0e-18
N 2,917,628
Large GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★★★☆
14 submitters10 publications

Autoimmune thyroid disease, susceptibility to, 3; Iodotyrosyl coupling defect (TDH3); TG-related disorder; not specified

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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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