rs2051935

This variant is located in the GLI3 gene.

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GWAS Catalog Trait Associations (4)

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

hippocampal CA4 volume

Liu N et al. “Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes.” Nature Genetics 55(7):1126-1137 (2023)
Allele A
OR 0.05
p 8.0e-11
N 38,977
Large GWAS
European, East Asian

mathematical ability

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele A
OR 0.01
p 9.0e-10
N 670,471
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter

Pallister-Hall syndrome; Greig cephalopolysyndactyly syndrome; Polydactyly

View on ClinVar →

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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