rs3784795

This is a intron variant variant in the NEO1 gene.

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GWAS Catalog Trait Associations (1)

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

anti-GAD65 autoimmune neurological syndromes

Strippel C et al. “A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies.” Brain : a Journal of Neurology 146(3):977-990 (2023)

Allele T

OR 2.64

p 9.0e-11

N 1,214

Large GWAS

European

About NEO1

This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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