rs252746

This is a intron 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.

forced expiratory volume

Wyss AB et al. “Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.” Nature Communications 9(1):2976 (2018)

Allele A

OR 20.05

p 6.0e-9

N 90,715

Meta-analysisLarge GWAS

multi-ancestry

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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