rs2058019

This is a intron variant variant in the GLI3 gene.

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GWAS Catalog Trait Associations (1)

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

retinopathy of prematurity

Li X et al. “Genome-wide association identifies novel ROP risk loci in a multiethnic cohort.” Communications Biology 7(1):107 (2024)

Allele T

OR 1.27

p 5.0e-8

N 920

Small GWAS

multi-ancestry

About GLI3

This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]

View all GLI3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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