rs10050860

A SNP in the ERAP1 gene on chromosome 5. Its most notable genotype is T;T: Half the risk (about 0.05%) of Ankylosing Spondylitis.

Gene
ERAP1
Location
Chr 596,786,506 (GRCh38)
Highest magnitude
1.7Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
13%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodNormal risk (about 0.1%) for Ankylosing Spondylitis.Minor · 1.382% of people
  2. C;TGood0.71x lower risk for Ankylosing Spondylitis.Minor · 1.417% of people
  3. T;TMost notableGoodHalf the risk (about 0.05%) of Ankylosing Spondylitis.Minor · 1.7<1% 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 11 HapMap populations.

  • AverageC;C 82% C;T 17% T;T <1%
  • European ancestry (Utah)C;C 56% C;T 37% T;T 7%
  • Han Chinese (Beijing)C;C 86% C;T 14% T;T 0%
  • Japanese (Tokyo)C;C 86% C;T 14% T;T 0%
  • Yoruba (Nigeria)C;C 88% C;T 11% T;T <1%
  • African ancestry (Southwest US)C;C 83% C;T 18% T;T 0%
  • Chinese (Denver)C;C 90% C;T 10% T;T 0%
  • Gujarati IndianC;C 87% C;T 13% T;T 0%
  • Luhya (Kenya)C;C 94% C;T 6% T;T 0%
  • Mexican ancestry (Los Angeles)C;C 86% C;T 14% T;T 0%
  • Maasai (Kenya)C;C 87% C;T 12% T;T <1%
  • TuscanC;C 65% C;T 33% T;T 2%

Conditions, medicines and genes

Other ERAP1 SNPs

All ERAP1 SNPs

Notes

From SNPedia

Show notes, about 220 words

rs10050860 is one of several SNPs in the ERAP1 gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.71 (p=7.7x10e-9).PMID 17952073, PMID 18037607 Note that the text description (but not the result) at 23andMe is wrong. It is the uncommon T allele that gives protection. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms. ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population. Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.

C;C

Normal, but still very low, risk (1 in a thousand) of the rare autoimmune disease that causes inflammation of the spine and joints. Based on preliminary research.

C;T

Very low risk (about 0.07%) of the rare autoimmune disease that causes inflammation of the spine and joints. Based on preliminary research.

T;T

Very low risk (5 in ten thousand) of the rare autoimmune disease that causes inflammation of the spine and joints.

Source and license

Adapted from rs10050860 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.