rs4812975

This is a upstream gene variant variant.

GWAS Catalog Trait Associations (26)

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

free cholesterol to total lipids in large HDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.20
p
N 241,027
Large GWAS
European

free cholesterol to total lipids in medium 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 A
OR 0.06
p 2.0e-159
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.11
p 2.0e-138
N 136,016
Large GWAS
multi-ancestry

cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.11
p 5.0e-138
N 136,016
Large GWAS
multi-ancestry

cholesteryl ester measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.06
p 1.0e-134
N 450,015
Large GWAS
multi-ancestry

cholesterol 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 A
OR 0.05
p 3.0e-107
N 450,015
Large GWAS
multi-ancestry

kit ligand amount

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.29
p 8.0e-78
N 10,708
Large GWAS
European

total lipids in medium VLDL

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.04
p 6.0e-72
N 450,015
Large GWAS
multi-ancestry

LDL particle size

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.04
p 2.0e-67
N 450,015
Large GWAS
multi-ancestry

sphingomyelin measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 3.0e-52
N 450,015
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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