rs872071

This is a regulatory region variant variant in the IRF4 gene.

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GWAS Catalog Trait Associations (4)

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

lymphocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 1.0e-32
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 9.0e-17
N 408,112
Large GWAS
European

hypothyroidism

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele A
OR 0.06
p 7.0e-31
N 1,178,661
Large GWAS
European

chronic lymphocytic leukemia

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 1.54
p 2.0e-20
N 1,943
Large GWAS
European
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 1.33
p 6.0e-20
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 1.39
p 3.0e-16
N 6,938
Large GWAS
European
Slager SL et al. “Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.” Blood 120(4):843-6 (2012)
Allele G
OR 1.47
p 8.0e-14
N 4,866
Large GWAS
European

leukemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.13
p 2.0e-13
N 449,666
Major Consortium StudyLarge GWAS
European

About IRF4

The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]

View all IRF4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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