rs7554255

This is a intron variant variant in the MACO1 gene.

GWAS Catalog Trait Associations (10)

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 T
OR 0.02
p 2.0e-22
N 450,015
Large GWAS
multi-ancestry

total lipids in small LDL

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 5.0e-16
N 136,016
Large GWAS
multi-ancestry

total cholesterol in small LDL

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 7.0e-16
N 136,016
Large GWAS
multi-ancestry

total cholesterol measurement, low density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 7.0e-16
N 136,016
Large GWAS
multi-ancestry

cholesteryl esters in medium LDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 9.0e-16
N 136,016
Large GWAS
multi-ancestry

esterified cholesterol measurement, low density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 9.0e-16
N 136,016
Large GWAS
multi-ancestry

total cholesterol in medium LDL

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 9.0e-16
N 136,016
Large GWAS
multi-ancestry

cholesterol:total lipids ratio, cholesteryl esters:total lipids ratio

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 9.0e-12
N 136,016
Large GWAS
multi-ancestry

cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.02
p 9.0e-10
N 136,016
Large GWAS
multi-ancestry

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

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 5.0e-11
N 136,016
Large GWAS
multi-ancestry

About MACO1

Predicted to enable microtubule binding activity. Involved in neuronal signal transduction. Located in rough endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all MACO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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