rs682632

This is a variant in the TEK gene that changes a glutamine to an proline.

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GWAS Catalog Trait Associations (2)

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

angiopoietin-1 receptor measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR 0.50
p 2.0e-114
N 21,758
Large GWAS
European
Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele A
OR 1.18
p 1.0e-12
N 497
Small GWAS
European

angiopoietin-1 receptor, soluble 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 0.40
p 7.0e-31
N 10,708
Large GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

Glaucoma 3, primary congenital, E (GLC3E); Multiple cutaneous and mucosal venous malformations (VMCM); not specified

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About TEK

This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

View all TEK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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