rs11117401
This is a intron variant variant in the ZNF469 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
central corneal thickness
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele G
OR 6.54
p 9.0e-58
N 16,204
Large GWAS
European
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 0.24
p 4.0e-20
N 26,742
Large GWAS
multi-ancestry
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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