rs12991836

This variant is located in the ZEB2 gene.

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GWAS Catalog Trait Associations (1)

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

schizophrenia

Trubetskoy V et al. “Mapping genomic loci implicates genes and synaptic biology in schizophrenia.” Nature 604(7906):502-508 (2022)

Allele A

OR 0.94

p 3.0e-14

N 175,799

Large GWAS

multi-ancestry

Ripke S et al. “Genome-wide association analysis identifies 13 new risk loci for schizophrenia.” Nature Genetics 45(10):1150-9 (2013)

Allele A

OR 1.08

p 1.0e-8

N 32,143

Large GWAS

multi-ancestry

About ZEB2

The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]

View all ZEB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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