rs11591147

A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is T;T: 2-3 fold lower risk of heart disease

Gene
PCSK9
Location
Chr 155,039,974 (GRCh38)
Highest magnitude
4.5Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GBadnormalTypical · 0.098% of people
  2. G;TGood2-3 fold lower risk of heart diseaseImportant · 3.52% of people
  3. T;TMost notableGood2-3 fold lower risk of heart diseaseVery important · 4.50% of people

On SNPedia: (G;G), (G;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 9 HapMap populations.

  • AverageG;G 98% G;T 2% T;T 0%
  • European ancestry (Utah)G;G 98% G;T 2% T;T 0%
  • Han Chinese (Beijing)G;G 99% G;T 2% T;T 0%
  • Japanese (Tokyo)G;G 98% G;T 2% T;T 0%
  • Yoruba (Nigeria)G;G 100% G;T 0% T;T 0%
  • African ancestry (Southwest US)G;G 98% G;T 2% T;T 0%
  • Chinese (Denver)G;G 99% G;T <1% T;T 0%
  • Luhya (Kenya)G;G 98% G;T 2% T;T 0%
  • Mexican ancestry (Los Angeles)G;G 93% G;T 7% T;T 0%
  • TuscanG;G 97% G;T 3% T;T 0%

Conditions, medicines and genes

Other PCSK9 SNPs

All PCSK9 SNPs

Notes

From SNPedia

Show notes, about 210 words

rs11591147, also known as R46L, is a SNP in the PCSK9 gene. As early as 2006, the minor rs11591147(T) allele was reported to be associated with lower LDL cholesterol levels, and most studies since have found that this also correlates to a two to three fold reduced risk for both early- and late-onset cardiovascular events and disease. As part of a 9 SNP set studied in a meta-analysis totaling over 300,000 patients, rs11591147 was the SNP with the greatest effect on LDL-C and therefore cardiovascular risk reduction. The set of SNPs was as follows, ordered from strongest to least effect on coronary risk, and the allele shown is the one associated with reduced LDL-C levels along with the associated (or nearby) lipid metabolism gene: * rs11591147(T), PCSK9 * rs4420638(A), APOE * rs6511720(T), LDLR * rs599839(G), SORT1 * rs646776(C), SORT1 * rs2228671(T), LDLR * rs11206510(C), PCSK9 * rs4299376(T), ABCG8 * rs12916(T), HMGCR 23andMe blog The T version of rs11591147 and the A version of rs28362286 have both been associated with decreased LDL levels. Each copy of these variants leads to lower LDL cholesterol.

G;G

Since the rare geno is good, this can be considered slightly bad

T;T

http://www.nature.com/news/genetics-a-gene-of-rare-effect-1.12773

Source and license

Adapted from rs11591147 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.