rs2243250

A SNP in the IL4 gene on chromosome 5. Its most notable genotype is C;T: 0.6x decreased risk for myocardial infarction if younger than 50

Gene
IL4
Location
Chr 5132,673,462 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
48%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CNot ratednormalTypical · 0.030% of people
  2. C;TMost notableGood0.6x decreased risk for myocardial infarction if younger than 50Worth knowing · 2.035% of people
  3. T;TGood0.33x decreased risk for myocardial infarction if younger than 50Worth knowing · 2.034% 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 30% C;T 35% T;T 34%
  • European ancestry (Utah)C;C 74% C;T 24% T;T 2%
  • Han Chinese (Beijing)C;C 5% C;T 42% T;T 53%
  • Japanese (Tokyo)C;C 7% C;T 40% T;T 53%
  • Yoruba (Nigeria)C;C 4% C;T 33% T;T 63%
  • African ancestry (Southwest US)C;C 19% C;T 49% T;T 32%
  • Chinese (Denver)C;C 6% C;T 37% T;T 57%
  • Gujarati IndianC;C 80% C;T 17% T;T 3%
  • Luhya (Kenya)C;C 0% C;T 36% T;T 64%
  • Mexican ancestry (Los Angeles)C;C 37% C;T 47% T;T 16%
  • Maasai (Kenya)C;C 23% C;T 45% T;T 32%
  • TuscanC;C 78% C;T 19% T;T 4%

Other IL4 SNPs

All IL4 SNPs

Notes

From SNPedia

Notes

rs2243250 is a SNP in the IL4 gene that is also known as the -589C>T SNP. In 300 patients younger than 50 years the rs2243250(T) allele was associated with a reduced risk of myocardial infarction (odds ratio 0.57, CI: 0.34-0.95). This result was replicated in another study, where carriers of one or two -589T alleles also had a reduced risk (odds ratio 0.67, CI: 0.47-0.95), with a strong protective effect of the -598T allele in homozygous -589T (odds ratio 0.33, CI: 0.10-1.05).

Source and license

Adapted from rs2243250 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.