rs58073046

This is a intron variant variant in the ARHGEF12 gene.

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GWAS Catalog Trait Associations (4)

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

body height

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.03
p 4.0e-71
N 928,679
Large GWAS
multi-ancestry

intraocular pressure measurement

Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)
Allele A
OR —
p 7.0e-23
N 133,492
Large GWAS
European
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele A
OR 0.26
p 3.0e-10
N 31,269
Large GWAS
European

glaucoma

Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)
Allele G
OR 1.16
p 1.0e-21
N 351,696
Large GWAS
European
MacGregor S et al. “Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.” Nature Genetics 50(8):1067-1071 (2018)
Allele G
OR 1.18
p 2.0e-12
N 137,086
Large GWAS
European

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele A
OR 0.14
p 1.0e-30
N 432,017
Large GWAS
multi-ancestry
Gharahkhani P et al. “Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.” Nature Communications 12(1):1258 (2021)
Allele A
OR 0.84
p 4.0e-19
N 216,257
Meta-analysisLarge GWAS
multi-ancestry

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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