rs1799895

A SNP in the SOD3 gene on chromosome 4. Its most notable genotype is G;G: Lower risk for lung disease; Higher risk for ischemic heart disease

Gene
SOD3
Location
Chr 424,800,212 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe
Minor allele frequency
2%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;GNot ratedSlightly (~1.5x) higher relative risk for ischemic heart disease plus lower risk for lung diseaseWorth knowing · 2.0
  3. G;GMost notableNot ratedLower risk for lung disease; Higher risk for ischemic heart diseaseWorth knowing · 2.5

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

Notes

From SNPedia

Show notes, about 140 words

rs1799895, also known as c.691C>G, p.Arg231Gly and R231G, is a SNP in the SOD3 gene on chromosome 4. About 2-3% of the population carries a rs1799895(G) allele, which has been associated with lowered risk for lung disease (COPD; ~0.5x) yet higher risk (~1.5x) for ischemic heart disease. Based on studies in mice, this paradoxical effect appears to be related to preferential distribution of the variant extracellular SOD enzyme from lung and vascular tissue to extracellular fluid. This redistribution is hypothesized to be beneficial in alveolar lung disease but detrimental in pulmonary vascular disease. See also OMIM 185490.0001

C;G

Slight increase (~1.5x) in relative risk for ischemic heart disease, and, lower risk for lung disease. See rs1799895; it is estimated that 2-3% of most populations carry a G allele for this SNP.

G;G

See discussion at rs1799895.

Source and license

Adapted from rs1799895 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.