rs13397985

This is a regulatory region variant variant in the SP110 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

Berndt SI et al. “Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.” Nature Genetics 45(8):868-76 (2013)
Allele G
OR 1.45
p 1.0e-22
N 8,400
Large GWAS
European
Speedy HE et al. “A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.” Nature Genetics 46(1):56-60 (2014)
Allele G
OR 1.43
p 5.0e-13
N 6,938
Large GWAS
European
Di Bernardo MC et al. “A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.” Nature Genetics 40(10):1204-10 (2008)
Allele G
OR 1.41
p 6.0e-10
N 1,943
Large GWAS
European

About SP110

The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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