rs27044

A SNP in the ERAP1 gene on chromosome 5. Its most notable genotype is C;C: normal risk

Gene
ERAP1
Location
Chr 596,783,148 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
35%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratednormal riskTypical · 0.045% of people
  2. C;GBad1.4x higher risk for spondylitisTypical · 0.041% of people
  3. G;GNot rated1.4x higher risk for spondylitisTypical · 0.014% of people

On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageC;C 45% C;G 41% G;G 14%
  • European ancestry (Utah)C;C 55% C;G 39% G;G 6%
  • Han Chinese (Beijing)C;C 36% C;G 47% G;G 18%
  • Japanese (Tokyo)C;C 41% C;G 32% G;G 27%
  • Yoruba (Nigeria)C;C 48% C;G 45% G;G 7%

Conditions, medicines and genes

Other ERAP1 SNPs

All ERAP1 SNPs

Notes

From SNPedia

Notes

rs27044 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 1.40 (p=1.0x10e-6).PMID 17952073, PMID 18037607 A study of 872 Korean patients with ankylosing spondylitis also found a significant association with this SNP.

Source and license

Adapted from rs27044 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.