rs148223916

This is a regulatory region variant variant in the AP3B1 gene.

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GWAS Catalog Trait Associations (1)

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

color vision disorder

Nardone GG et al. “Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations.” Frontiers in Genetics 14:1161696 (2023)

Allele C

OR 0.24

p 6.0e-11

N 520

Small GWAS

Other

About AP3B1

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

View all AP3B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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