rs6540223
This is a intron variant variant in the ZNF469 gene.
▶Research that mentions this SNP (1)
▶Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thicknessMeta-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.
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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