rs12721054

This is a 3 prime utr variant variant in the APOC1 gene.

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GWAS Catalog Trait Associations (11)

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

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 G
OR 0.22
p 2.0e-169
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR 0.23
p 6.0e-10
N 94,674
Large GWAS
multi-ancestry
Choudhury A et al. “Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.” Nature Communications 13(1):2578 (2022)
Allele G
OR 0.19
p 7.0e-47
N 24,600
Meta-analysisLarge GWAS
Sub-Saharan African
Gurdasani D et al. “Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.” Cell 179(4):984-1002.e36 (2019)
Allele G
OR 0.18
p 7.0e-25
N 14,126
Large GWAS
Sub-Saharan African
Coram MA et al. “Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.” American Journal of Human Genetics 92(6):904-16 (2013)
Allele G
OR 0.10
p 3.0e-19
N 10,936
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele G
OR 0.08
p 5.0e-109
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

total cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele G
OR 0.10
p 6.0e-68
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

social deprivation, triglyceride measurement

Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele A
OR —
β 0.025
p 3.0e-36
N 105,888
Large GWAS
multi-ancestry

triglyceride measurement, depressive symptom measurement

Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele A
OR —
β 0.039
p 1.0e-33
N 19,133
Large GWAS
African American or Afro-Caribbean

level of apolipoprotein C-I in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele G
OR 0.91
p 2.0e-25
N 466
Small GWAS
African American or Afro-Caribbean

level of speriolin-like protein in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele G
OR 0.82
p 2.0e-20
N 466
Small GWAS
African American or Afro-Caribbean

anxiety measurement, triglyceride measurement

Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele A
OR —
β 0.097
p 6.0e-11
N 19,133
Large GWAS
African American or Afro-Caribbean

triglyceride:HDL cholesterol ratio

Oliveri A et al. “Comprehensive genetic study of the insulin resistance marker TG:HDL-C in the UK Biobank.” Nature Genetics 56(2):212-221 (2024)
Allele A
OR 0.17
p 1.0e-9
N 6,632
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

About APOC1

This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]

View all APOC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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