rs1804495

This is a variant in the SERPINA7 gene that changes a leucine to an phenylalanine.

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GWAS Catalog Trait Associations (2)

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

thyroxine level

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.50
p 3.0e-106
N 6,136
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.37
p 2.0e-93
N 10,253
Large GWAS
multi-ancestry

replication initiator 1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.31
p 2.0e-73
N 10,708
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
10 submitters7 publications

SERPINA7-related disorder; Thyroxine-binding globulin quantitative trait locus (TBGQTL); Thyroxine-binding globulin, variant P; not specified

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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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