rs599839

A SNP in the PSRC1 gene on chromosome 1. Its most notable genotype is A;A: 1.4x increased risk for heart disease

Gene
PSRC1
Location
Chr 1109,279,544 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
31%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBad1.4x increased risk for heart diseaseMinor · 1.548% of people
  2. A;GBad1.3x increased risk for heart disease; slightly lower (0.8x) risk for abdominal aortic aneurysmMinor · 1.328% of people
  3. G;GGoodmoderately lower (0.64x) risk for abdominal aortic aneurysmMinor · 1.524% of people

On SNPedia: (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 11 HapMap populations.

  • AverageA;A 48% A;G 28% G;G 24%
  • European ancestry (Utah)A;A 53% A;G 38% G;G 9%
  • Han Chinese (Beijing)A;A 91% A;G 10% G;G 0%
  • Japanese (Tokyo)A;A 84% A;G 14% G;G 2%
  • Yoruba (Nigeria)A;A 4% A;G 28% G;G 68%
  • African ancestry (Southwest US)A;A 9% A;G 33% G;G 58%
  • Chinese (Denver)A;A 91% A;G 8% G;G <1%
  • Gujarati IndianA;A 56% A;G 34% G;G 10%
  • Luhya (Kenya)A;A 3% A;G 34% G;G 64%
  • Mexican ancestry (Los Angeles)A;A 64% A;G 31% G;G 5%
  • Maasai (Kenya)A;A 14% A;G 50% G;G 36%
  • TuscanA;A 63% A;G 30% G;G 7%

Conditions, medicines and genes

Genosets

Genosets combine several genotypes. Twofold checks them in your report.

Notes

From SNPedia

Show notes, about 230 words

rs599839 is a SNP found to be associated with heart disease by the German MI (Myocardial infarction) Family Study group, over several populations. The odds ratio for the (common) risk allele, rs599839(A), is 1.29 (CI: 1.18-1.40, adjusted p=0.0006). rs599839 and rs4970834 explain about 1% of the variation in circulating LDL-cholesterol levels. "When we look at this particular genetic variance, of all the cholesterol variation among the population, 1% of it can be attributed to this particular locus," said Sandhu. "This is equivalent to more established genes for LDL regulation, particularly APOE." Another study also reports an association between rs599839(A) and higher LDL levels, in over 4,000 Caucasian Europeans. In one study, the (A) allele is associated with a 6% increase in nonfasting serum LDL, and in another, with a 25% increase in fasting serum LDL. rs599839 is also considered one of the statistically stronger associations with abdominal aortic aneurysm; each (G) allele is reported as having an odds ratio of 0.8. This appears to correlate with lower LDL and higher HDL and the lower risk for coronary artery disease compared to (A;A) individuals., rs646776 is a surrogate for rs599839, with linkage r 2 =0.88. rs599839, rs4970834 and rs17228212 associated with non-HDL

A;A

see discussion at rs599839

A;G

see discussion at [[rs599839]

G;G

see discussion at rs599839

Source and license

Adapted from rs599839 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.