rs247616

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (53)

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

free cholesterol to total lipids in large VLDL percentage

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 0.22
p —
N 241,027
Large GWAS
European

triglycerides to total lipids in large VLDL percentage

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 0.21
p —
N 241,027
Large GWAS
European

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 T
OR 0.28
p 9.9e-324
N 113,085
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR 0.25
p 2.0e-46
N 94,674
Large GWAS
multi-ancestry
Proust C et al. “Contribution of Rare and Common Genetic Variants to Plasma Lipid Levels and Carotid Stiffness and Geometry: A Substudy of the Paris Prospective Study 3.” Circulation. Cardiovascular Genetics 8(4):628-36 (2015)
Allele T
OR 0.06
p 2.0e-23
N 3,681
Large GWAS
Smith EN et al. “Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.” Plos Genetics 6(9):e1001094 (2010)
Allele T
OR 2.99
p 1.0e-23
N 525
Small GWAS
European

total 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 T
OR 0.04
p 2.0e-123
N 1,320,016
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.053
p 5.0e-30
N 94,674
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.11
p 1.0e-103
N 85,701
Large GWAS
European
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 0.04
p 2.0e-74
N 450,015
Large GWAS
multi-ancestry

triglyceride measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.07
p 2.0e-57
N 136,016
Large GWAS
multi-ancestry

phospholipids in VLDL measurement

Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.08
p 1.0e-56
N 88,329
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 8.0e-16
N 136,016
Large GWAS
multi-ancestry

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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