rs10858023

This is a upstream gene variant variant in the AP4B1 gene.

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GWAS Catalog Trait Associations (2)

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

cutaneous melanoma

Liyanage UE et al. “Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma.” The Journal of Investigative Dermatology 142(6):1607-1616 (2022)

Allele C

OR 0.04

p 2.0e-9

N 380,287

Large GWAS

European

cardiovascular disease

Guindo-Martínez M et al. “The impact of non-additive genetic associations on age-related complex diseases.” Nature Communications 12(1):2436 (2021)

Allele T

OR 1.09

p 3.0e-8

N 56,637

Large GWAS

European

About AP4B1

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all AP4B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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