rs5800

A SNP in the EDN2 gene on chromosome 1. Its most notable genotype is T;T: AF risk in HCM patients (only)

Gene
EDN2
Location
Chr 141,479,019 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
15%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableNot ratedAF risk in HCM patients (only)Typical · 0.02% of people
  2. C;TNot ratedAF risk in HCM patients (only)Typical · 0.08% of people
  3. C;CNot ratednormalTypical · 0.090% of people

SNPedia records rs5800 on the minus strand: (A;A), (A;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 7 HapMap populations.

  • AverageT;T 2% C;T 8% C;C 90%
  • European ancestry (Utah)T;T 0% C;T 22% C;C 78%
  • Han Chinese (Beijing)T;T 0% C;T 7% C;C 93%
  • Japanese (Tokyo)T;T <1% C;T 0% C;C 99%
  • Yoruba (Nigeria)T;T 9% C;T 25% C;C 66%
  • African ancestry (Southwest US)T;T 4% C;T 0% C;C 96%
  • Chinese (Denver)T;T <1% C;T 0% C;C 99%
  • TuscanT;T 3% C;T 1% C;C 96%

Conditions, medicines and genes

Other EDN2 SNPs

All EDN2 SNPs

Notes

From SNPedia

Notes

rs5800, also known as A985G, is a SNP in the endothelin-2 EDN2 gene. In a study of 110 Japanese patients being treated for hypertrophic cardiomyopathy (HCM), the rs5800(A) allele frequency was more than double in those who developed atrial fibrillation (AF) than among those who did not. This was statistically significant (p=0.014 by chi-square analysis, p=0.018 in an adjusted multivariate model). Note that the rs5800(A) allele is not associated with increased risk for cardiomyopathy; in fact, it may even be somewhat protective. It is associated with atrial fibrillation only in patients with hypertrophic cardiotrophy.

Source and license

Adapted from rs5800 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.