rs34004493

This is a intron variant variant in the SP140 gene.

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GWAS Catalog Trait Associations (1)

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

chronic lymphocytic leukemia

Law PJ et al. “Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.” Nature Communications 8:14175 (2017)

Allele G

OR 1.39

p 4.0e-32

N 17,691

Large GWAS

European

About SP140

This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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