rs2104286

A SNP in the IL2RA gene on chromosome 10. Its most notable genotype is C;C: protective minor allele, slightly reducing risk for MS & RA

Gene
IL2RA
Location
Chr 106,057,082 (GRCh38)
Highest magnitude
1.4Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
14%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TBad1.7x risk for RA; 1.6X for T1D; also MS?Typical · 0.078% of people
  2. C;TBad1.4x risk for RA; 1.3x for T1D; also MS?Typical · 0.020% of people
  3. C;CMost notableGoodprotective minor allele, slightly reducing risk for MS & RAMinor · 1.42% of people

SNPedia records rs2104286 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 78% C;T 20% C;C 2%
  • European ancestry (Utah)T;T 58% C;T 33% C;C 9%
  • Han Chinese (Beijing)T;T 77% C;T 21% C;C 2%
  • Japanese (Tokyo)T;T 76% C;T 22% C;C 2%
  • Yoruba (Nigeria)T;T 97% C;T 3% C;C 0%
  • African ancestry (Southwest US)T;T 86% C;T 12% C;C 2%
  • Chinese (Denver)T;T 75% C;T 23% C;C 2%
  • Gujarati IndianT;T 66% C;T 32% C;C 2%
  • Luhya (Kenya)T;T 92% C;T 8% C;C 0%
  • Mexican ancestry (Los Angeles)T;T 81% C;T 19% C;C 0%
  • Maasai (Kenya)T;T 87% C;T 13% C;C 0%
  • TuscanT;T 60% C;T 32% C;C 8%

Notes

From SNPedia

Show notes, about 270 words

rs2104286 has also been reported in a large study to be associated with type-1 diabetes. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.30 (CI 1.02-1.65), and for homozygotes, 1.57 (CI 1.25-1.99). The same (A) allele of rs2104286, which is located in the first intron of the IL2RA gene, was calculated to confer a slight increase (19%) in the risk of developing multiple sclerosis. [PMID tbd; NEJM 357, 29 July 2007, DA Hafler et al.] Note that the (A) allele is the most common at this position in all known populations. blog post giving perspective on the significance of this SNP with respect to multiple sclerosis news announcement rs2104286 was significantly associated with UK cases of juvenile idiopathic arthritis (JIA)(allelic odds ratio = 0.76, CI: 0.66-0.88, trend p=0.0002), and the association was strongest in a cohort of patients with oligoarthritis, the most common subtype of JIA. This SNP was most strongly associated with female patients and those positive for antinuclear antibodies. Genotype data for SNP rs2104286 for controls was combined with the data for that SNP obtained from a genome-wide association study (WTCCC GWA), giving a total control sample size of 6787. This association with rs2104286 was replicated in a second study cohort of JIA cases from the USA (odds ratio 0.84, CI: 0.65-1.0, trend p=0.05). Meta-analysis of the two cohorts yielded highly significant evidence for association (odds ratio 0.76, CI: 0.62-0.88, p-value 4.9 x 10 -6 ). plos rs12722489 and rs2104286 influence multiple sclerosis and type-1 diabetes

C;T

Higher risk of type-1 diabetes

Source and license

Adapted from rs2104286 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.