rs192378059

This is a intron variant variant in the MIPEP gene.

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GWAS Catalog Trait Associations (1)

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

neutrophil count

Hu Y et al. “Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) study.” Bmc Genomics 22(1):432 (2021)

Allele T

OR 1.06

p 4.0e-8

N 21,347

Large GWAS

Hispanic or Latin American

About MIPEP

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

View all MIPEP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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