rs200234554

This variant is located in the RAB2A gene.

GWAS Catalog Trait Associations (2)

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

neutrophil count

Allele G
OR 0.01
p 1.0e-13
N 394,642
Large GWAS
European

epididymis-specific alpha-mannosidase measurement

Allele G
OR 0.03
p 4.0e-13
N 47,745
Large GWAS
European

About RAB2A

The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

View all RAB2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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