rs17228212

A SNP in the SMAD3 gene on chromosome 15. Its most notable genotype is C;C: >1.26x increased risk for heart disease

Gene
SMAD3
Location
Chr 1567,166,301 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
16%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableBad>1.26x increased risk for heart diseaseWorth knowing · 2.04% of people
  2. C;TBad1.26x increased risk for heart diseaseWorth knowing · 2.019% of people
  3. T;TGoodnormalTypical · 0.077% 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 4% C;T 19% T;T 77%
  • European ancestry (Utah)C;C 13% C;T 43% T;T 45%
  • Han Chinese (Beijing)C;C 0% C;T 2% T;T 99%
  • Japanese (Tokyo)C;C 0% C;T 0% T;T 100%
  • Yoruba (Nigeria)C;C 1% C;T 19% T;T 80%
  • African ancestry (Southwest US)C;C 0% C;T 23% T;T 77%
  • Gujarati IndianC;C 4% C;T 14% T;T 82%
  • Luhya (Kenya)C;C 4% C;T 23% T;T 74%
  • Mexican ancestry (Los Angeles)C;C 2% C;T 12% T;T 86%
  • Maasai (Kenya)C;C 4% C;T 21% T;T 76%
  • TuscanC;C 10% C;T 34% T;T 56%

Conditions, medicines and genes

Other SMAD3 SNPs

All SMAD3 SNPs

Notes

From SNPedia

Notes

rs17228212 is a SNP found to be associated with heart disease by the German MI (Myocardial infarction) Family Study group in two populations. The odds ratio per allele is 1.26 (CI: 1.11-1.44, p=0.0178). rs599839, rs4970834 and rs17228212 associated with non-HDL cholesterol

Source and license

Adapted from rs17228212 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.