rs2278426
This is a protein-altering variant in the ANGPTL8 gene.
▶GWAS Catalog Trait Associations (50)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (50)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
phospholipids in medium 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 T
OR 0.13
p 2.0e-154
N 450,015
Large GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.11
p 1.0e-36
N 136,016
Large GWAS
multi-ancestry
high density lipoprotein cholesterol measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.12
p 5.0e-153
N 578,125
Major Consortium StudyLarge GWAS
multi-ancestry
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.11
p 4.0e-61
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele C
OR 0.08
p 1.0e-52
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele C
OR 0.03
p 3.0e-13
N 288,127
Large GWAS
East Asian
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.11
p 1.0e-35
N 136,016
Large GWAS
multi-ancestry
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 C
OR 0.06
p 8.0e-98
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.08
p 1.0e-14
N 115,082
Large GWAS
European
phospholipids in 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 T
OR 0.12
p 2.0e-148
N 450,015
Large GWAS
multi-ancestry
total lipids in medium 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 T
OR 0.12
p 6.0e-148
N 450,015
Large GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.11
p 4.0e-34
N 136,016
Large GWAS
multi-ancestry
concentration of medium HDL 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 0.12
p 4.0e-146
N 450,015
Large GWAS
multi-ancestry
apolipoprotein A 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 0.12
p 3.0e-145
N 450,015
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 T
OR 0.09
p 4.0e-82
N 394,642
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 0.13
p 1.0e-85
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.11
p 1.0e-36
N 136,016
Large GWAS
multi-ancestry
ANGPTL8 measurement
Oldoni F et al. “Genetic and Metabolic Determinants of Plasma Levels of ANGPTL8.” The Journal of Clinical Endocrinology and Metabolism 106(6):1649-1667 (2021)
Allele T
OR 0.81
p 6.0e-140
N 3,457
Large GWAS
multi-ancestry
total lipids in 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 T
OR 0.11
p 1.0e-134
N 450,015
Large GWAS
multi-ancestry
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 T
OR 0.11
p 2.0e-123
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
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 0.10
p 1.0e-58
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.09
p 2.0e-20
N 38,000
Large GWAS
South Asian
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 3.82
p 1.0e-8
N 6,949
Large GWAS
East Asian
level of phosphatidylcholine
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 0.12
p 5.0e-122
N 450,015
Large GWAS
multi-ancestry
About ANGPTL8
Predicted to enable hormone activity. Involved in regulation of lipid metabolic process and triglyceride homeostasis. Acts upstream of or within positive regulation of protein processing and regulation of lipoprotein metabolic process. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]
View all ANGPTL8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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