rs35523808

This variant is located in the COL12A1 gene.

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GWAS Catalog Trait Associations (1)

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

keratoconus

Hardcastle AJ et al. “A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.” Communications Biology 4(1):266 (2021)

Allele A

OR 0.66

p 3.0e-25

N 26,742

Large GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

7 submitters3 publications

not specified; Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2; not provided

View on ClinVar →

About COL12A1

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all COL12A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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