rs55646464

This is a intron variant variant in the CPEB4 gene.

GWAS Catalog Trait Associations (17)

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

VLDL particle size

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 2.0e-13
N 450,015
Large GWAS
multi-ancestry

triglycerides to phosphoglycerides ratio

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 3.0e-13
N 450,015
Large GWAS
multi-ancestry

triglycerides in large VLDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

total lipids in large VLDL

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 5.0e-12
N 450,015
Large GWAS
multi-ancestry

triglycerides in medium VLDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 5.0e-12
N 450,015
Large GWAS
multi-ancestry

phospholipids in large VLDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 7.0e-12
N 450,015
Large GWAS
multi-ancestry

concentration of large VLDL particles measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

free cholesterol in large VLDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

sex hormone-binding globulin measurement

Allele G
OR 0.01
p 1.0e-11
N 180,094
Large GWAS
European

concentration of very large VLDL particles measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 2.0e-11
N 450,015
Large GWAS
multi-ancestry

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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