rs314304

This is a intron variant variant in the ZAN 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 A

OR 0.34

p 2.0e-12

N 1,214

Large GWAS

European

About ZAN

This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]

View all ZAN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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