rs61744414
This variant is located in the CPAMD8 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.
cataract
Choquet H et al. “A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.” Nature Communications 12(1):3595 (2021)
Allele T
OR 1.10
p 5.0e-13
N 586,243
Meta-analysisLarge GWAS
multi-ancestry
▶ClinVar annotation
About CPAMD8
This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
View all CPAMD8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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