rs1034200

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GWAS Catalog Trait Associations (2)

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

corneal topography

Lu Y et al. “Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.” Nature Genetics 45(2):155-63 (2013)
Allele A
OR 0.10
p 4.0e-9
N 20,020
Large GWAS
multi-ancestry

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 C
OR 0.14
p 4.0e-9
N 1,445
Large GWAS
European
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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

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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