rs999885

This is a regulatory region variant variant in the AP4M1 gene.

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GWAS Catalog Trait Associations (1)

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

level of protein canopy homolog 4 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 A

OR 0.06

p 7.0e-23

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

Hereditary spastic paraplegia; Hereditary spastic paraplegia 50 (SPG50)

View on ClinVar →

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Research that mentions this SNP (1)

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MCM7 polymorphisms associated with the AML relapse and overall survival

AssociationN=344Jin Sol Lee et al.(2017)· Annals of Hematology

This case-control genetic association study of 103 AML patients and 241 controls examined seven MCM7 polymorphisms for associations with AML susceptibility, relapse, and overall survival. While MCM7 polymorphisms showed no significant association with AML risk (p > 0.05), rs2070215 (N144S) demonstrated a protective effect against AML relapse (OR = 0.37; p_corr = 0.02), and rs1534309 was associated with overall survival (HR = 1.8; p = 0.05). Haplotypes ht1 and ht2 also showed significant associations with AML relapse.

Traits studied:AML overall survivalAML relapseAcute myeloid leukemia (AML)

PubMed DOI Metascience Observatory

About AP4M1

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]