rs2069556

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

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GWAS Catalog Trait Associations (2)

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

Thyroid stimulating hormone level

Williams AT et al. “Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.” Nature Communications 14(1):6713 (2023)
Allele A
OR 0.03
p 5.0e-30
N 247,107
Large GWAS
multi-ancestry

autoimmune thyroid disease

Saevarsdottir S et al. “FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.” Nature 584(7822):619-623 (2020)
Allele A
OR 1.07
p 1.0e-12
N 754,406
Large GWAS
European
Zeng Y et al. “Genetic Associations Between Stress-Related Disorders and Autoimmune Disease.” The American Journal of Psychiatry 180(4):294-304 (2023)
Allele A
OR 1.06
p 2.0e-9
N 376,871
Large GWAS
European
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ClinVar annotation

Benign★★★☆
7 submitters2 publications

Iodotyrosyl coupling defect (TDH3); not specified

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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