rs505151
A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is A;A: common in complete genomics
- Gene
- PCSK9
- Location
- Chr 155,063,514 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 10%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (G;G). 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.
- AverageA;A 75% G;G 4%
- European ancestry (Utah)A;A 94% G;G 0%
- Han Chinese (Beijing)A;A 84% G;G 0%
- Japanese (Tokyo)A;A 95% G;G 0%
- Yoruba (Nigeria)A;A 44% G;G 10%
- African ancestry (Southwest US)A;A 56% G;G 7%
- Chinese (Denver)A;A 87% G;G 0%
- Gujarati IndianA;A 94% G;G 0%
- Luhya (Kenya)A;A 47% G;G 10%
- Maasai (Kenya)A;A 55% G;G 9%
- TuscanA;A 94% G;G 0%
Related
Conditions, medicines and genes
Other PCSK9 SNPs
- rs28942112C;TFamilial HypercholesterolemiaVery important
- rs137852912C;GFamilial HypercholesterolemiaVery important
- rs793888521A;GFamilial HypercholesterolemiaVery important
- i5000370C;Tfamilial hypercholesterolemiaVery important
- rs11591147T;T2-3 fold lower risk of heart diseaseVery important
- rs28942111A;TFamilial hypercholesterolemiaVery important
- rs28362286A;ALowered LDL-C and lower risk for coronary eventsImportant
- rs67608943C;G40% reduction in LDL-cholesterolImportant
Notes
From SNPedia
Show notes, about 170 words
rs505151 is a SNP, also known as E670G or 23968A>G, in the proprotein convertase subtilisin/kexin type 9 PCSK9 gene. rs505151(G) encodes the Gly (G), and rs505151(A) encodes the Glutamic acid (E). In a study of 506 European polygenic hypercholesterolemia patients, the rs505151(G) allele was found with increased frequency in men but not in women. rs505151 rs562556 show evidence of 'gain-of-function' mutations that are associated with higher LDL cholesterol levels. Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study. The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Source and license
Adapted from rs505151 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.