rs4762284

This is a downstream gene variant variant in the ELK3 gene.

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GWAS Catalog Trait Associations (1)

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

B-cell acute lymphoblastic leukemia

Vijayakrishnan J et al. “A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.” Leukemia 31(3):573-579 (2017)

Allele T

OR 1.19

p 8.0e-9

N 8,882

Large GWAS

European

About ELK3

This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all ELK3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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