rs35030851

This variant is located in the TEK gene.

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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 T
OR 0.78
p 7.0e-300
N 21,758
Large GWAS
European

angiopoietin-1 receptor, soluble measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele T
OR 0.68
p 3.0e-49
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.56
p 1.0e-22
N 3,301
Large GWAS
European
Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.92
p 4.0e-21
N 997
Small GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

Multiple cutaneous and mucosal venous malformations; not provided; not specified

View on ClinVar →

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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