rs2234036

This is a variant in the SERPINA7 gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (1)

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

thyroxine level

Wei Y et al. “Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.” Nature Communications 15(1):8004 (2024)
Allele T
OR 0.25
p 4.0e-22
N 67,315
Large GWAS
East Asian
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ClinVar annotation

Pathogenic★★★☆
5 submitters3 publications

SERPINA7-related disorder; Thyroxine-binding globulin deficiency; Thyroxine-binding globulin, variant A

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About SERPINA7

There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.[provided by RefSeq, Jun 2012]

View all SERPINA7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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