rs17095953

This is a regulatory region 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.

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)
Allele A
OR 0.57
p 2.0e-33
N 43,148
Large GWAS
multi-ancestry
Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele A
OR 0.28
p 2.0e-10
N 31,434
Major Consortium StudyLarge GWAS
European

retinal nerve fibre layer thickness

Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele A
OR 0.28
p 2.0e-10
N 31,434
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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