rs30187

A SNP in the ERAP1 gene on chromosome 5. Its most notable genotype is T;T: 2x higher risk for Ankylosing Spondylitis.

Gene
ERAP1
Location
Chr 596,788,627 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
41%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodNormal low risk (0.1%) for ankylosing spondylitis.Minor · 1.234% of people
  2. C;TBad1.4x higher risk for Ankylosing Spondylitis.Minor · 1.547% of people
  3. T;TMost notableBad2x higher risk for Ankylosing Spondylitis.Worth knowing · 2.019% 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 34% C;T 47% T;T 19%
  • European ancestry (Utah)C;C 47% C;T 44% T;T 9%
  • Han Chinese (Beijing)C;C 24% C;T 53% T;T 23%
  • Japanese (Tokyo)C;C 38% C;T 41% T;T 21%
  • Yoruba (Nigeria)C;C 35% C;T 44% T;T 21%
  • African ancestry (Southwest US)C;C 32% C;T 51% T;T 18%
  • Chinese (Denver)C;C 23% C;T 57% T;T 20%
  • Gujarati IndianC;C 36% C;T 45% T;T 20%
  • Luhya (Kenya)C;C 35% C;T 49% T;T 16%
  • Mexican ancestry (Los Angeles)C;C 40% C;T 41% T;T 19%
  • Maasai (Kenya)C;C 22% C;T 54% T;T 24%
  • TuscanC;C 42% C;T 40% T;T 18%

Conditions, medicines and genes

Other ERAP1 SNPs

All ERAP1 SNPs

Notes

From SNPedia

Show notes, about 130 words

rs30187 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. Each T allele appears to increase the odds by about 1.4x (p=3.4x10e-10). PMID 17952073, PMID 18037607 A study of 872 Korean patients found that each T allele was associated with 1.5x higher odds of ankylosing spondylitis.

C;C

Normal very low risk (1 in a thousand) of this rare autoimmune disease that causes inflammation of the spine and joints. Verified in Europeans and Asians.

C;T

Higher, but still very low, risk (0.14%) of this rare autoimmune disease that causes inflammation of the spine and joints.

T;T

Doubled, but still very low, risk (0.2%) of this rare autoimmune disease that causes inflammation of the spine and joints.

Source and license

Adapted from rs30187 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.