rs176095

This is a regulatory region variant variant in the PBX2 gene.

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GWAS Catalog Trait Associations (1)

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

atopic eczema

Hirota T et al. “Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.” Nature Genetics 44(11):1222-6 (2012)

Allele T

OR 1.40

p 8.0e-20

N 9,443

Large GWAS

East Asian

About PBX2

This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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