rs119468010

This is a variant in the MPO gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (6)

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

myeloperoxidase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 1.60
p 4.0e-263
N 47,745
Large GWAS
European

neutrophil measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.99
p 3.0e-64
N 38,341
Large GWAS
European

neutrophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.16
p 9.0e-18
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.12
p 5.0e-14
N 394,642
Large GWAS
European

leukocyte quantity

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.15
p 2.0e-16
N 408,112
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
15 submitters14 publications

Alzheimer disease type 1 (AD1); MPO-related disorder; Myeloperoxidase deficiency (MPOD)

View on ClinVar →

About MPO

Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]

View all MPO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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