rs28687756

This is a intron variant variant in the ZNF469 gene.

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GWAS Catalog Trait Associations (2)

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

central corneal thickness

Iglesias AI et al. “Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.” Nature Communications 9(1):1864 (2018)

Allele T

OR 7.51

p 8.0e-38

N 17,803

Large GWAS

European

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)

Allele T

OR 0.15

p 7.0e-26

N 115,486

Large GWAS

European

About ZNF469

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

View all ZNF469 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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