rs112299234

This variant is located in the CPEB4 gene.

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GWAS Catalog Trait Associations (3)

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

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)

Allele T

OR 1.05

p 1.0e-24

N 1,650,345

Meta-analysisLarge GWAS

multi-ancestry

visceral:abdominal adipose tissue ratio measurement

Agrawal S et al. “Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.” Nature Communications 13(1):3771 (2022)

Allele T

OR 0.05

p 3.0e-12

N 38,965

Large GWAS

European, East Asian, South Asian, African unspecified, NR

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 1.0e-11

N 408,112

Large GWAS

European

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]