rs9615351

This variant is located in the CELSR1 gene.

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GWAS Catalog Trait Associations (3)

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

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 14.87
p 5.0e-50
N 33,748
Large GWAS
European
Sha Z et al. “The genetic architecture of structural left-right asymmetry of the human brain.” Nature Human Behaviour 5(9):1226-1239 (2021)
Allele G
OR —
p 3.0e-8
N 32,256
Large GWAS
European

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 G
OR —
p 1.0e-15
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 G
OR 7.68
p 2.0e-14
N 33,748
Large GWAS
European

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele G
OR 7.47
p 8.0e-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 G
OR —
p 2.0e-12
N 35,657
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

CELSR1-related disorder

View on ClinVar →

About CELSR1

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]

View all CELSR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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