rs9635726

This variant is located in the IKZF3 gene.

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GWAS Catalog Trait Associations (1)

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

primary biliary cirrhosis

Qiu F et al. “A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.” Nature Communications 8:14828 (2017)
Allele G
OR 1.37
p 2.0e-16
N 5,158
Large GWAS
East Asian

About IKZF3

This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]

View all IKZF3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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