rs67608943
A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is C;G: 40% reduction in LDL-cholesterol
- Gene
- PCSK9
- Location
- Chr 155,046,549 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in complete genomics
- C;GMost notableGood40% reduction in LDL-cholesterol
- G;GGoodStrong reduction in LDL-C
On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
- rs72646508C;TLowered LDL-C and reduced risk for coronary eventsImportant
Notes
From SNPedia
Notes
rs67608943, also known as Y142X, 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.
C;G
Lower plasma LDL-C, with predicted reduced risk for coronary events.
G;G
Likely to be very strong reduction in LDL-C and thereby coronary event risk.
Source and license
Adapted from rs67608943 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.