rs12785387

This is a regulatory region variant variant in the ARHGEF12 gene.

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GWAS Catalog Trait Associations (2)

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

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.02

p 3.0e-28

N 525,444

Large GWAS

multi-ancestry

intraocular pressure measurement

Springelkamp H et al. “ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.” Human Molecular Genetics 24(9):2689-99 (2015)

Allele T

OR 0.28

p 2.0e-8

N 8,015

Large GWAS

About ARHGEF12

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

View all ARHGEF12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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