rs3132306

This is a upstream gene variant variant.

GWAS Catalog Trait Associations (1)

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

Research that mentions this SNP (1)

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

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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