rs200982668
This is a protein-altering variant in the COL6A5 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.
chronic kidney disease
Yamada Y et al. “Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.” International Journal of Molecular Medicine 42(5):2415-2436 (2018)
Allele G
OR 4.76
p 5.0e-9
N 2,556
Large GWAS
East Asian
About COL6A5
This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
View all COL6A5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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