rs72660961

This is a intron variant variant in the MACO1 gene.

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GWAS Catalog Trait Associations (6)

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

anti-GAD65 autoimmune neurological syndromes

Strippel C et al. “A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies.” Brain : a Journal of Neurology 146(3):977-990 (2023)
Allele T
OR 0.28
p 4.0e-14
N 1,214
Large GWAS
European

free cholesterol to total lipids in very small 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 0.02
p 4.0e-14
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in small 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 0.01
p 7.0e-12
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in small 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 0.01
p 3.0e-11
N 450,015
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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