rs4800148

This variant is located in the CABLES1 gene.

▶

GWAS Catalog Trait Associations (2)

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

body height

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele A
OR 0.06
p 6.0e-25
N 67,452
Large GWAS
East Asian
Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)
Allele A
OR 0.07
p 2.0e-19
N 57,129
Large GWAS
European
Gudbjartsson DF et al. “Many sequence variants affecting diversity of adult human height.” Nature Genetics 40(5):609-15 (2008)
Allele A
OR 6.40
p 4.0e-9
N 30,968
Large GWAS
European

body fat distribution

Rask-Andersen M et al. “Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.” Nature Communications 10(1):339 (2019)
Allele G
OR —
β 0.035
p 9.0e-21
N 116,138
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature
PubMedDOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…