rs6861681

This is a intron variant variant in the CPEB4 gene.

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GWAS Catalog Trait Associations (5)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 8.0e-15
N 1,122,049
Large GWAS
European

systolic blood pressure, waist-hip ratio

Huang LO et al. “Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.” Nature Metabolism 3(2):228-243 (2021)
Allele G
OR —
p 3.0e-12
N 376,783
Large GWAS
multi-ancestry

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele G
OR 0.01
p 1.0e-9
N 426,824
Large GWAS
European
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Research that mentions this SNP (1)

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Association studies of novel obesity-related gene variants with quantitative metabolic phenotypes in a population-based sample of 6,039 Danish individuals
AssociationN=6,039Burgdorf KS et al.(2012)· Diabetologia

This association study investigates 18 BMI-associated and 14 WHR-associated gene variants identified by prior GWAS in 6,039 Danish individuals from the Inter99 cohort. The study found that QPCTL rs2287019 C allele was associated with increased insulinogenic index (7.4%, p=4.0×10⁻⁷) and disposition index (5.6%, p=6.4×10⁻⁵), while LRP1B rs2890652 C allele was associated with insulin resistance (3.3% increase in HOMA-IR, p=0.0011). For WHR variants, LYPLAL1/SLC30A10 rs4846567 G allele carriers showed improved insulin sensitivity (5.2% lower HOMA-IR in women, p=0.00086), whereas VEGFA rs6905288 A allele carriers showed insulin resistance in women (3.7% increase in HOMA-IR, p=0.00036).

Traits studied:BIGTT-AIR (Beta Cell Function)Body Mass Index (BMI)Disposition IndexFasting Plasma GlucoseFasting Serum InsulinHOMA-IR (Insulin Resistance)Insulinogenic IndexMatsuda Index (Insulin Sensitivity)Waist-Hip Ratio (WHR)
PubMedDOIMetascience Observatory

About CPEB4

Enables RNA binding activity. Predicted to be involved in several processes, including cellular response to glucose starvation; negative regulation of cytoplasmic translation; and response to ischemia. Located in cytoplasm and nucleus. Biomarker of liver cirrhosis; portal hypertension; and primary biliary cholangitis. [provided by Alliance of Genome Resources, Jul 2025]

View all CPEB4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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