rs4933980
This is a downstream gene variant variant in the CDHR1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Myopia
Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele A
OR 0.07
p 2.0e-10
N 64,268
Meta-analysisMajor Consortium StudyLarge GWAS
European
About CDHR1
This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]
View all CDHR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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