rs141663544

This is a intron variant variant in the COL8A1 gene.

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GWAS Catalog Trait Associations (2)

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

intercellular adhesion molecule 2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.26

p 2.0e-18

N 47,745

Large GWAS

European

vascular endothelial growth factor receptor 3 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.33

p 6.0e-14

N 47,745

Large GWAS

European

About COL8A1

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]

View all COL8A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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