rs2230926

A SNP in the TNFAIP3 gene on chromosome 6. Its most notable genotype is G;G: 1.4x risk of rheumatoid arthritis

Gene
TNFAIP3
Location
Chr 6137,874,929 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
12%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GMost notableBad1.4x risk of rheumatoid arthritisWorth knowing · 2.15% of people
  2. G;TBad1.4x higher risk for rheumatoid arthritisWorth knowing · 2.022% of people
  3. T;TGoodcommon in complete genomicsTypical · 0.073% of people

On SNPedia: (G;G), (G;T), (T;T). 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.

  • AverageG;G 5% G;T 22% T;T 73%
  • European ancestry (Utah)G;G 0% G;T 5% T;T 95%
  • Han Chinese (Beijing)G;G 0% G;T 12% T;T 88%
  • Japanese (Tokyo)G;G 3% G;T 16% T;T 81%
  • Yoruba (Nigeria)G;G 21% G;T 48% T;T 31%
  • African ancestry (Southwest US)G;G 12% G;T 30% T;T 58%
  • Chinese (Denver)G;G <1% G;T 12% T;T 87%
  • Gujarati IndianG;G 0% G;T 7% T;T 93%
  • Luhya (Kenya)G;G 6% G;T 57% T;T 36%
  • Mexican ancestry (Los Angeles)G;G 0% G;T 3% T;T 97%
  • Maasai (Kenya)G;G 12% G;T 45% T;T 43%
  • TuscanG;G 0% G;T 8% T;T 92%

Conditions, medicines and genes

Other TNFAIP3 SNPs

All TNFAIP3 SNPs

Notes

From SNPedia

Show notes, about 360 words

rs2230926, also known as c.380T>G, p.Phe127Cys and F127C, is a SNP in the TNFAIP3 gene on chromosome 6. The tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, a key molecule in numerous immunologic and other processes due to it's role in controlling NF-κB activation. Meta-analysis found 1.4x risk of rheumatoid arthritis for rs2230926(G;G) An association was found between Systemic lupus erythematosus (SLE) and rs2230926. Three independent SNPs in the TNFAIP3 region (rs13192841, rs2230926 and rs6922466) are associated with systemic lupus erythematosus (SLE) among individuals of European ancestry. In Sjögren's syndrome patients, the rs2230926(G) allele more than doubles the risk of primary Sjogren's Syndrome-associated Non-Hodgkin Lymphoma, according to a study which replicated the initial report in both UK and French patient cohorts of ~500 patients. The meta-analysis of the UK and French cohorts confirmed the initial finding, with odds ratios of 2.48 (CI: 1.87 - 3.28, p=0.0037) and 2.60, (CI: 1.91 - 3.53, p=0.0031), respectively. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations. Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23. Complex genetic association of 6q23 with autoimmune rheumatic conditions. Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases. TNFAIP3 gene polymorphisms are associated with response to TNF blockade in psoriasis. Associations between TNFAIP3 gene polymorphisms and rheumatoid arthritis: a meta-analysis.

G;G

Also higher risk for lymphoma in Sjögren's syndrome patients; see discussion at rs2230926.

G;T

Also higher risk for lymphoma in Sjögren's syndrome patients; see discussion at rs2230926.

Source and license

Adapted from rs2230926 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.