rs13095226

This is a intron variant variant in the COL8A1 gene.

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Research that mentions this SNP (1)

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TGFB1 as a Susceptibility Gene for High Myopia
AssociationN=431Zha Y. et al.(2009)· Archives of Ophthalmology

This case-control study evaluated 10 AMD-associated SNPs in 4 genes (CFI, COL8A1, LIPC, APOE) and their association with choroidal neovascularization in highly myopic Spanish Caucasian patients (147 mCNV, 103 HM without CNV, 181 controls). SNPs rs13095226 and rs669676 in COL8A1 showed significant associations in univariate analysis (OR=2.0 and 2.4 respectively), but lost significance after Bonferroni correction. Meta-analysis of rs669676 confirmed association with myopic CNV. Only age and hypertension remained significant in multivariate analysis.

Traits studied:Age-related macular degenerationChoroidal neovascularizationHigh myopiaMyopic choroidal neovascularization
PubMedDOIMetascience Observatory

About COL8A1

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]

View all COL8A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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