rs872071

A SNP in the IRF4 gene on chromosome 6. Its most notable genotype is A;G: ~1.5x increased risk for chronic lymphocytic leukemia

Gene
IRF4
Location
Chr 6411,064 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
33%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratednormal risk for chronic lymphocytic leukemiaTypical · 0.055% of people
  2. A;GMost notableBad~1.5x increased risk for chronic lymphocytic leukemiaMinor · 1.535% of people
  3. G;GBad~1.5x increased risk for chronic lymphocytic leukemiaMinor · 1.510% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageA;A 55% A;G 35% G;G 10%
  • European ancestry (Utah)A;A 25% A;G 49% G;G 27%
  • Han Chinese (Beijing)A;A 53% A;G 39% G;G 8%
  • Japanese (Tokyo)A;A 53% A;G 42% G;G 5%
  • Yoruba (Nigeria)A;A 100% A;G 0% G;G 0%
  • African ancestry (Southwest US)A;A 68% A;G 26% G;G 5%
  • Chinese (Denver)A;A 44% A;G 44% G;G 12%
  • Gujarati IndianA;A 30% A;G 52% G;G 19%
  • Luhya (Kenya)A;A 98% A;G 2% G;G 0%
  • Mexican ancestry (Los Angeles)A;A 26% A;G 59% G;G 16%
  • Maasai (Kenya)A;A 77% A;G 22% G;G 1%
  • TuscanA;A 27% A;G 54% G;G 20%

Conditions, medicines and genes

Other IRF4 SNPs

All IRF4 SNPs

Notes

From SNPedia

Show notes, about 130 words

rs872071 is a SNP associated with the interferon regulatory factor 4 IRF4 gene. In a GWAS study including over 1,500 Caucasian patients with chronic lymphocytic leukemia (CLL), the rs872071(G) allele showed the strongest association (p = 1.91 x 10e-20) of all SNPs studied. The reported odds ratio was 1.54. See also: 23andMe blog A subsequent study () has found a similar association extending to another 800+ Spanish and Swedish CLL patients. rs872071 was also seen to be associated with CLL in Hong Kong Chinese (71 patients), with a reported odds ratio of 1.78 (CI: 1.25-2.53). A related hematologic malignancy, Hodgkin's lymphoma, may also be influenced by rs872071. Two case-control series totalling 529 and 2192 patients found an odds ratio of 1.21 (CI: 1.05-1.39, p = 0.009).

Source and license

Adapted from rs872071 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.