rs9962540

This variant is located in the CABLES1 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 A

OR 0.00

p 4.0e-11

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

About CABLES1

This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

View all CABLES1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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