rs143720575

This is a intron variant variant in the DAAM1 gene.

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GWAS Catalog Trait Associations (2)

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

brain connectivity attribute

Sha Z et al. “Genetic architecture of the white matter connectome of the human brain.” Science Advances 9(7):eadd2870 (2023)
Allele G
OR 7.62
p 2.0e-14
N 30,810
Large GWAS
European

total cortical area measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.09
p 2.0e-9
N 21,282
Major Consortium StudyLarge GWAS
European

About DAAM1

Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]

View all DAAM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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