rs4245595

This is a intron variant variant in the ARID5B gene.

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GWAS Catalog Trait Associations (1)

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

acute lymphoblastic leukemia

Evans TJ et al. “Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.” Plos One 9(10):e110255 (2014)

Allele C

OR 1.63

p 2.0e-9

N 1,550

Large GWAS

European

About ARID5B

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

View all ARID5B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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