rs4369779

This variant is located in the CABLES1 gene.

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GWAS Catalog Trait Associations (4)

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 0.07
p 1.0e-300
N 4,080,687
Large GWAS
European
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.05
p 2.0e-206
N 405,540
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 2.0e-250
N 394,642
Large GWAS
European
Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)
Allele T
OR 0.06
p 2.0e-53
N 253,288
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 9.0e-73
N 165,056
Large GWAS
East Asian
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.06
p 9.0e-82
N 153,950
Large GWAS
East Asian
Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)
Allele T
OR 0.05
p 5.0e-15
N 59,771
Major Consortium StudyLarge GWAS
Hispanic or Latin American
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele T
OR 0.53
p 5.0e-24
N 36,227
Meta-analysisLarge GWAS
East Asian

BMI-adjusted hip circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele T
OR 0.03
p 3.0e-15
N 143,480
Large GWAS
multi-ancestry

neck of femur size

Tobias JH et al. “Femoral neck width genetic risk score is a novel independent risk factor for hip fractures.” Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research 39(3):241-251 (2024)
Allele C
OR 0.05
p 4.0e-8
N 38,150
Large GWAS
European

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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