rs1050152

A SNP in the SLC22A4 gene on chromosome 5. Its most notable genotype is T;T: 2.1x increased risk of Crohn's disease

Gene
SLC22A4
Location
Chr 5132,340,627 (GRCh38)
Highest magnitude
2.1Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
18%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodnormalTypical · 0.078% of people
  2. C;TBad2.1x increased risk of Crohn's diseaseWorth knowing · 2.018% of people
  3. T;TMost notableBad2.1x increased risk of Crohn's diseaseWorth knowing · 2.13% 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 78% C;T 18% T;T 3%
  • European ancestry (Utah)C;C 31% C;T 58% T;T 12%
  • Han Chinese (Beijing)C;C 100% C;T 0% T;T 0%
  • Japanese (Tokyo)C;C 100% C;T 0% T;T 0%
  • Yoruba (Nigeria)C;C 100% C;T 0% T;T 0%
  • African ancestry (Southwest US)C;C 81% C;T 19% T;T 0%
  • Chinese (Denver)C;C 97% C;T 3% T;T 0%
  • Gujarati IndianC;C 80% C;T 19% T;T 1%
  • Mexican ancestry (Los Angeles)C;C 55% C;T 38% T;T 7%
  • Maasai (Kenya)C;C 97% C;T 3% T;T 0%
  • TuscanC;C 43% C;T 43% T;T 14%

Conditions, medicines and genes

Other SLC22A4 SNPs

All SLC22A4 SNPs

Notes

From SNPedia

Notes

rs1050152, a SNP in the SLC22A4 gene known as L503F, has been associated with an autoimmune disease, in this case, Crohn's disease, odds ratio = 2.1 (CI = 1.31–3.39, p = 0.002), based on a study of 203 cases and 200 controls. The risk allele is rs1050152(T). A nearby SNP (rs2631367) in the promoter region of the SLC22A5 gene defines a haplotype along with rs3792876, with odds ratio reported as similar for either SNP or the haplotype. Referring to the TC risk haplotype, the population risk attributable to heterozygotes was 19%, and for homozygous haplotype carriers, 27%.

Source and license

Adapted from rs1050152 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.