rs17480616

This is a protein-altering variant in the CNOT4 gene.

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GWAS Catalog Trait Associations (2)

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 C

OR 0.05

p 5.0e-64

N 5,314,291

Large GWAS

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

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)

Allele C

OR 0.04

p 5.0e-13

N 450,243

Major Consortium StudyLarge GWAS

European

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Research that mentions this SNP (1)

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Identification of rare genetic variants in novel loci associated with Paget’s disease of bone

AssociationN=537Mariejka Beauregard et al.(2014)· Human Genetics

This association study identified 126 rare genetic variants in candidate genes within five novel Paget's disease of bone (PDB)-associated loci in a French-Canadian population (240 cases, 297 controls). The study replicated associations with common variants rs484959, rs499345, rs10494112 (1p13 locus) and rs5742915 (15q24 locus). Two rare variants showed marginal association with PDB: rs62620995 (p.Leu397Phe in TM7SF4, p=0.09, RR=2.06) and rs35500845 (c.372+259a>G in CTHRC1, p=0.046, RR=0.65).

Traits studied:Paget's disease of bone

PubMed DOI Metascience Observatory

About CNOT4

The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]