rs929387

This is a variant in the GLI3 gene that changes a proline to an arginine.

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GWAS Catalog Trait Associations (3)

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

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 8.26
p 1.0e-16
N 33,748
Large GWAS
European

cerebral cortex area attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 7.64
p 2.0e-14
N 33,748
Large GWAS
European
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele A
OR —
p 1.0e-12
N 35,657
Large GWAS
European

dentate gyrus 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 2.0e-9
N 38,977
Large GWAS
European, East Asian
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ClinVar annotation

Benign★☆☆☆
11 submitters2 publications

Greig cephalopolysyndactyly syndrome (GCPS); Pallister-Hall syndrome (PHS)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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