rs1417329

This is a intron variant variant in the DIAPH3 gene.

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GWAS Catalog Trait Associations (1)

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

cerebral cortex area attribute

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 T

OR —

p 1.0e-17

N 35,657

Large GWAS

European

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)

Allele T

OR 7.80

p 6.0e-15

N 33,748

Large GWAS

European

About DIAPH3

This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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