rs140843407

This variant is located in the AP4M1 gene.

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GWAS Catalog Trait Associations (2)

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

level of paired immunoglobulin-like type 2 receptor beta 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 T

OR 0.18

p 2.0e-16

N 47,745

Large GWAS

European

paired immunoglobulin-like type 2 receptor alpha 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 0.16

p 2.0e-15

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

7 submitters3 publications

not specified; Hereditary spastic paraplegia 50; Hereditary spastic paraplegia; not provided

View on ClinVar →

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]