rs28362286
A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is A;A: Lowered LDL-C and lower risk for coronary events
- Gene
- PCSK9
- Location
- Chr 155,063,542 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableGoodLowered LDL-C and lower risk for coronary events
- A;CGoodLowered LDL-C and lower risk for coronary events
- C;CGoodcommon in complete genomics
On SNPedia: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageA;A 0% A;C 2% C;C 98%
- Yoruba (Nigeria)A;A 0% A;C 4% C;C 96%
- African ancestry (Southwest US)A;A 0% A;C 2% C;C 98%
- Luhya (Kenya)A;A 0% A;C <1% C;C 99%
- Mexican ancestry (Los Angeles)A;A 0% A;C 2% C;C 98%
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
- rs67608943C;G40% reduction in LDL-cholesterolImportant
- rs72646508C;TLowered LDL-C and reduced risk for coronary eventsImportant
Notes
From SNPedia
Show notes, about 120 words
rs28362286, also known as C679X, is a SNP in the PCSK9 gene. It has been reported in several studies (including ) to be both rare (2% frequency in Africans, 0.1% in Europeans) and as a dominant nonsense mutation a cause of plasma LDL-C levels being up to 40% lower than average. This lowered LDL-C level is thought to be directly associated with very significantly lowered risk for coronary events. 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. Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.
Source and license
Adapted from rs28362286 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.