rs2304256

A SNP in the TYK2 gene on chromosome 19. Its most notable genotype is C;C: 1.6x increased risk for SLE

Gene
TYK2
Location
Chr 1910,364,976 (GRCh38)
Highest magnitude
0.1Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
29%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ANot ratednormalTypical · 0.010% of people
  2. A;CNot rated1.6x increased risk for SLETypical · 0.033% of people
  3. C;CMost notableBad1.6x increased risk for SLETypical · 0.156% of people

On SNPedia: (A;A), (A;C), (C;C). 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 10% A;C 33% C;C 56%
  • European ancestry (Utah)A;A 12% A;C 41% C;C 47%
  • Han Chinese (Beijing)A;A 21% A;C 54% C;C 24%
  • Japanese (Tokyo)A;A 15% A;C 49% C;C 36%
  • Yoruba (Nigeria)A;A 0% A;C 19% C;C 81%
  • African ancestry (Southwest US)A;A 2% A;C 23% C;C 75%
  • Chinese (Denver)A;A 32% A;C 39% C;C 28%
  • Gujarati IndianA;A 10% A;C 30% C;C 60%
  • Luhya (Kenya)A;A 5% A;C 20% C;C 76%
  • Mexican ancestry (Los Angeles)A;A 2% A;C 35% C;C 64%
  • Maasai (Kenya)A;A 3% A;C 29% C;C 68%
  • TuscanA;A 12% A;C 29% C;C 59%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 150 words

rs2304256 is a SNP in the TYK2 gene on chromosome 19. The most common allele, rs2304256(C), has been associated with increased risk for systemic lupus erythematosus (SLE), with an odds ratio of 1.6 (CI: 1.3-1.9). No association was seen between this SNP and SLE in a study of 411 Japanese SLE patients. Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia. Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study. Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients. Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus.

Source and license

Adapted from rs2304256 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.