rs12949256

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

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GWAS Catalog Trait Associations (1)

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

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)

Allele T

OR —

β 0.043

p 3.0e-51

N 684,122

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]

View all ARHGAP27 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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