rs72812818
This is a intron variant variant in the CPEB4 gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
diastolic blood pressure
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.19
p 2.0e-31
N 1,028,980
Large GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.02
p 3.0e-29
N 928,679
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 3.0e-23
N 394,642
Large GWAS
European
mean arterial pressure
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 1.0e-17
N 506,365
Large GWAS
multi-ancestry
systolic blood pressure
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele C
OR 0.22
p 1.0e-16
N 1,028,980
Large GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.02
p 2.0e-13
N 928,679
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 8.0e-12
N 394,642
Large GWAS
European
total lipids in large HDL
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.01
p 4.0e-14
N 450,015
Large GWAS
multi-ancestry
phospholipids in large HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.01
p 7.0e-14
N 450,015
Large GWAS
multi-ancestry
urate measurement
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele C
OR 0.02
p 7.0e-13
N 630,117
Large GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele C
OR 0.02
p 3.0e-8
N 677,373
Meta-analysisLarge GWAS
European
visceral:gluteofemoral 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 G
OR 0.04
p 9.0e-10
N 38,965
Large GWAS
European, East Asian, South Asian, African unspecified, NR
triglyceride measurement
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.01
p 4.0e-9
N 1,320,016
Large GWAS
European
high density lipoprotein cholesterol measurement
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.01
p 1.0e-8
N 1,320,016
Large GWAS
European
BMI-adjusted hip circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.02
p 2.0e-8
N 186,825
Major Consortium StudyLarge 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]
View all CPEB4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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