rs186558953

This is a intron variant variant in the AP2B1 gene.

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GWAS Catalog Trait Associations (1)

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

C-C motif chemokine 4 level

Ahola-Olli AV et al. “Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.” American Journal of Human Genetics 100(1):40-50 (2017)

Allele C

OR 0.57

p 4.0e-16

N 8,243

Large GWAS

European

About AP2B1

The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all AP2B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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