rs2269475

A SNP in the AIF1 gene on chromosome 6. Its most notable genotype is T;T: increased rheumatoid arthritis risk

Gene
AIF1
Location
Chr 631,616,154 (GRCh38)
Highest magnitude
1.8Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
16%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadincreased rheumatoid arthritis riskMinor · 1.82% of people
  2. C;TBadincreased rheumatoid arthritis riskTypical · 0.021% of people
  3. C;CNot ratednormalTypical · 0.077% of people

SNPedia records rs2269475 on the minus strand: (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.

  • AverageT;T 2% C;T 21% C;C 77%
  • European ancestry (Utah)T;T 3% C;T 27% C;C 71%
  • Han Chinese (Beijing)T;T 2% C;T 29% C;C 69%
  • Japanese (Tokyo)T;T 8% C;T 34% C;C 58%
  • Yoruba (Nigeria)T;T 0% C;T 13% C;C 87%
  • African ancestry (Southwest US)T;T 4% C;T 26% C;C 70%
  • Chinese (Denver)T;T 5% C;T 17% C;C 78%
  • Gujarati IndianT;T 1% C;T 17% C;C 82%
  • Luhya (Kenya)T;T 2% C;T 11% C;C 87%
  • Mexican ancestry (Los Angeles)T;T 2% C;T 22% C;C 76%
  • Maasai (Kenya)T;T 2% C;T 16% C;C 82%
  • TuscanT;T 0% C;T 19% C;C 81%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 120 words

rs2269475 is a SNP in the allograft inflammatory factor-1 (AIF-1) gene, which may be involved in inflammatory processes. In a study of 276 Polish Caucasian patients with rheumatoid arthritis, the frequency of rs2269475(A) carriers among patients was 31.9% vs 19.1% among controls (p = 0.0003). The frequency of individuals positive for anti-cyclic citrullinated peptide (anti-CCP) antibodies was also significantly elevated in these carriers (odds ratio 8.82, CI: 2.06-37.7). Allograft inflammatory factor-1 and tumor necrosis factor single nucleotide polymorphisms in systemic sclerosis. An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis.

Source and license

Adapted from rs2269475 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.