rs12447690

This is a intron variant variant in the ZNF469 gene.

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GWAS Catalog Trait Associations (3)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.01
p 1.0e-23
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

eye measurement

Vitart V et al. “New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.” Human Molecular Genetics 19(21):4304-11 (2010)
Allele G
OR 0.16
p 6.0e-22
N 1,445
Large GWAS
European
Lu Y et al. “Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.” Plos Genetics 6(5):e1000947 (2010)
Allele G
OR 0.16
p 9.0e-11
N 5,980
Large GWAS
European

central corneal thickness

Gao X et al. “Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos.” Human Molecular Genetics 25(22):5035-5045 (2016)
Allele C
OR 4.86
p 2.0e-8
N 3,584
Large GWAS
Hispanic or Latin American
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Research that mentions this SNP (1)

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Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness
Meta-analysisN=5,349René Hoehn et al.(2012)· Human Genetics

A population-based meta-analysis of 5,349 Caucasians from the Gutenberg Health Study and Rotterdam Study confirms genome-wide significant associations with central corneal thickness (CCT) at the ZNF469 locus on 16q24 (rs9938149, β=5.5 μm, P=1.45×10⁻¹²) and COL5A1 locus on 9q34 (rs3132306, β=5.1 μm, P=2.71×10⁻¹⁰), but does not confirm the COL8A2 locus previously reported in Asian populations, suggesting ethnic-specific genetic influences on CCT.

Traits studied:Central corneal thickness (CCT)Open-angle glaucoma
PubMedDOIMetascience Observatory

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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