rs2028299

This variant is located in the AP3S2 gene.

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GWAS Catalog Trait Associations (1)

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

type 2 diabetes mellitus

Kooner JS et al. “Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.” Nature Genetics 43(10):984-9 (2011)

Allele C

OR 1.10

p 2.0e-11

N 20,019

Large GWAS

South Asian

Zhao W et al. “Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.” Nature Genetics 49(10):1450-1457 (2017)

Allele C

OR 0.06

p 4.0e-8

N 183,651

Large GWAS

multi-ancestry

About AP3S2

Predicted to be involved in anterograde synaptic vesicle transport and vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of AP-3 adaptor complex. [provided by Alliance of Genome Resources, Apr 2025]

View all AP3S2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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