rs139778046
This is a variant in the PRTN3 gene that changes a histidine to an leucine.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
myeloblastin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.44
p 1.0e-12
N 47,745
Large GWAS
European
▶ClinVar annotation
Uncertain significance
About PRTN3
Enables enzyme binding activity; serine-type endopeptidase activity; and signaling receptor binding activity. Involved in several processes, including mature conventional dendritic cell differentiation; neutrophil extravasation; and positive regulation of GTPase activity. Located in azurophil granule lumen; cytosol; and plasma membrane raft. [provided by Alliance of Genome Resources, Jul 2025]
View all PRTN3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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