rs10488631

A SNP in the TNPO3 gene on chromosome 7. Its most notable genotype is C;C: 2x increased risk of developing SLE; 3.2x increased risk of developing primary biliary cirrhosis; and 3.4x increased risk of developing Sjögren's syndrome

Gene
TNPO3
Location
Chr 7128,954,129 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
5%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBad2x increased risk of developing SLE; 3.2x increased risk of developing primary biliary cirrhosis; and 3.4x increased risk of developing Sjögren's syndromeImportant · 3.0<1% of people
  2. C;TBad2x increased risk of developing SLE; 1.6x increased risk of developing primary biliary cirrhosis; and 1.7x increased risk of developing Sjögren's syndromeWorth knowing · 2.010% of people
  3. T;TGoodNormal risk of developing SLE, primary biliary cirrhosis, and Sjögren's syndromeMinor · 1.089% of people

On SNPedia: (C;C), (C;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 10 HapMap populations.

  • AverageC;C <1% C;T 10% T;T 89%
  • European ancestry (Utah)C;C 2% C;T 21% T;T 77%
  • Han Chinese (Beijing)C;C 0% C;T <1% T;T 99%
  • Japanese (Tokyo)C;C 0% C;T 0% T;T 100%
  • Yoruba (Nigeria)C;C 0% C;T 0% T;T 100%
  • African ancestry (Southwest US)C;C 0% C;T 2% T;T 98%
  • Gujarati IndianC;C 3% C;T 26% T;T 71%
  • Luhya (Kenya)C;C 0% C;T 2% T;T 98%
  • Mexican ancestry (Los Angeles)C;C 0% C;T 31% T;T 69%
  • Maasai (Kenya)C;C 0% C;T 8% T;T 92%
  • TuscanC;C 2% C;T 14% T;T 84%

Conditions, medicines and genes

Other TNPO3 SNPs

All TNPO3 SNPs

Notes

From SNPedia

Notes

rs10488631, a SNP located 3' of the IRF5 gene, has been reported as a possibly causative SNP for systemic lupus erthymatosus (SLE), based on a study of ~700 Swedish patients. The risk allele is rs10488631(C), with a reported odds ratio of 2.07 (CI: 1.63-2.62, p = 9x10e-10). The C allele is also associated with primary biliary cirrhosis, with each C increasing the odds about 1.6 times. Each C allele increases risk of Sj&#246;gren's syndrome by 1.7 times. SLE rs10488631 and rs7582694

Source and license

Adapted from rs10488631 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.