rs137852912
A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is C;G: Familial Hypercholesterolemia
- Gene
- PCSK9
- Location
- Chr 155,057,454 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;GMost notableBadFamilial Hypercholesterolemia
- G;GGoodcommon in clinvar
- G;TBadDominant mutation associated with Familial Hypercholesterolemia
On SNPedia: (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PCSK9 SNPs
- rs28942112C;TFamilial 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
- rs72646508C;TLowered LDL-C and reduced risk for coronary eventsImportant
Notes
From SNPedia
Notes
aka c.1120G>T, p.Asp374Tyr or D374Y reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease This SNP was not present on earlier versions of the Ancestry v2 DNA chip (originally released ~May 2016), but is now present in some "v2" data files from Ancestry starting sometime in 2018.
G;T
Check cholesterol levels; if high, increased risk for cardiovascular disease
Source and license
Adapted from rs137852912 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.