rs2604894

This is a intron variant variant in the RAB4B gene.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele A

OR 0.19

p 9.0e-26

N 5,366

Large GWAS

European

smoking status measurement, chronic obstructive pulmonary disease

Kim W et al. “Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.” American Journal of Epidemiology 190(5):875-885 (2021)

Allele A

OR —

p 6.0e-9

N 200,766

Large GWAS

European

About RAB4B

Enables GTPase activity. Involved in D-glucose import; early endosome to Golgi transport; and endosomal vesicle fusion. Located in insulin-responsive compartment; perinuclear region of cytoplasm; and recycling endosome. Is active in early endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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