rs4763

This is a regulatory region variant variant in the ARHGAP27 gene.

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GWAS Catalog Trait Associations (3)

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

amount of iron in brain

Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)

Allele G

OR 0.07

p 2.0e-17

N 39,533

Major Consortium StudyLarge GWAS

European

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)

Allele A

OR 0.05

p 2.0e-8

N 139,274

Large GWAS

multi-ancestry

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele A

OR —

p 4.0e-8

N 239,268

Large GWAS

European

About ARHGAP27

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]