rs2589113

This variant is located in the CCDC88A gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.02
p 2.0e-36
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
N'Diaye A et al. “Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.” Plos Genetics 7(10):e1002298 (2011)
Allele T
OR 0.04
p 2.0e-8
N 20,427
Large GWAS
multi-ancestry

About CCDC88A

This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all CCDC88A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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