rs78950939

This is a variant in the MPO gene that changes a tyrosine to an cysteine.

▶

GWAS Catalog Trait Associations (2)

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 C

OR 1.07

p 1.0e-38

N 47,745

Large GWAS

European

level of carcinoembryonic antigen-related cell adhesion molecule 6 in blood

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 0.56

p 5.0e-13

N 47,745

Large GWAS

European

▶

ClinVar annotation

Pathogenic★☆☆☆

5 submitters2 publications

Alzheimer disease type 1 (AD1); 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]