rs2820224

This is a intron variant variant in the ANKS1A gene.

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GWAS Catalog Trait Associations (4)

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 11.31
p 1.0e-29
N 33,748
Large GWAS
European

cortical thickness

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 7.35
p 2.0e-13
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 G
OR 7.44
p 1.0e-13
N 33,748
Large GWAS
European

About ANKS1A

Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all ANKS1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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