rs34791230
This variant is located in the MACO1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
phosphoglyceric acid measurement
Nemkov T et al. “Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes.” Cell Metabolism 36(9):1979-1997.e13 (2024)
Allele A
OR 0.07
p 9.0e-12
N 11,334
Large GWAS
multi-ancestry
low density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.03
p 7.0e-10
N 115,082
Large GWAS
European
free cholesterol measurement, low density lipoprotein cholesterol measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.02
p 2.0e-8
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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