rs115340137
This is a intron variant variant in the MACO1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
HbA1c measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.16
p 1.0e-32
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry
erythrocyte volume
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.13
p 7.0e-24
N 408,112
Large GWAS
European
mean reticulocyte volume
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.11
p 2.0e-17
N 408,112
Large GWAS
European
intercellular adhesion molecule 4 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.20
p 6.0e-16
N 47,745
Large GWAS
European
bilirubin measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.10
p 4.0e-14
N 928,679
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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