rs3744893

This variant is located in the RAX gene.

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GWAS Catalog Trait Associations (1)

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

gastrin-releasing peptide measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.13

p 5.0e-25

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

Isolated microphthalmia 3; not provided

View on ClinVar →

About RAX

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

View all RAX variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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