rs12027110

This is a intron variant variant in the MACO1 gene.

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GWAS Catalog Trait Associations (2)

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

low density lipoprotein cholesterol measurement, physical activity

Kilpeläinen TO et al. “Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.” Nature Communications 10(1):376 (2019)

Allele A

OR —

p 2.0e-16

N 109,688

Large GWAS

multi-ancestry

low density lipoprotein cholesterol measurement, phospholipid level

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele A

OR 0.02

p 2.0e-9

N 115,082

Large GWAS

European

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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