rs483082

This is a regulatory region variant variant in the APOC1 gene.

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GWAS Catalog Trait Associations (66)

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

C-reactive protein measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.15

p —

N 355,127

Major Consortium StudyLarge GWAS

multi-ancestry

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 T

OR 0.10

p —

N 1,320,016

Large GWAS

European

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)

Allele T

OR 0.09

p 1.0e-292

N 441,016

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.08

p 5.0e-287

N 394,642

Large GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele T

OR 0.07

p 7.0e-129

N 361,194

Large GWAS

European

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.09

p 2.0e-219

N 355,577

Major Consortium StudyLarge GWAS

multi-ancestry

Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)

Allele T

OR 0.11

p 1.0e-11

N 13,814

Large GWAS

European

Read RW et al. “Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.” Frontiers in Genetics 12:639418 (2021)

Allele T

OR 7.16

p 8.0e-10

N 9,183

Large GWAS

European

Moon S et al. “The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.” Scientific Reports 9(1):1382 (2019)

Allele T

OR 0.07

p 3.0e-10

N 6,949

Large GWAS

East Asian

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele T

OR 0.72

p 6.0e-261

N 5,363

Large GWAS

European

triglycerides in very small 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 0.10

p 2.0e-168

N 203,300

Large GWAS

European

Alzheimer disease, family history of Alzheimer’s disease

Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)

Allele T

OR —

p 4.0e-161

N 404,467

Large GWAS

multi-ancestry

Alzheimer disease

Allele T

OR —

p 4.0e-139

N 27,907

Large GWAS

European, African unspecified, Hispanic or Latin American, Asian unspecified, NR

Jun GR et al. “Transethnic genome-wide scan identifies novel Alzheimer's disease loci.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 13(7):727-738 (2017)

Allele T

OR 2.80

p 1.0e-15

N 33,263

Large GWAS

multi-ancestry

monounsaturated fatty acids; 16:1, 18:1 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 0.09

p 6.0e-135

N 203,300

Large GWAS

European

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.07

p 6.0e-125

N 354,097

Major Consortium StudyLarge GWAS

multi-ancestry

Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)

Allele T

OR 0.27

p 2.0e-12

Large GWAS

apolipoprotein E measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.35

p 7.0e-109

N 10,708

Large GWAS

European

triglyceride measurement, phospholipid level

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele T

OR 0.10

p 2.0e-104

N 136,016

Large GWAS

multi-ancestry

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]

rs483082

GWAS Catalog Trait Associations (66)

C-reactive protein measurement

triglyceride measurement

blood protein amount

triglycerides in very small VLDL measurement

Alzheimer disease, family history of Alzheimer’s disease

Alzheimer disease

monounsaturated fatty acids; 16:1, 18:1 measurement

apolipoprotein B measurement

apolipoprotein E measurement

triglyceride measurement, phospholipid level

About APOC1

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