i5000370
A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is C;T: familial hypercholesterolemia
- Gene
- PCSK9
- Location
- Chr 155,518,073 (GRCh38)
- Highest magnitude
- 4.5Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;TMost notableBadfamilial hypercholesterolemia
- T;TGoodcommon/normal
On SNPedia: (C;T), (T;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
- rs137852912C;GFamilial HypercholesterolemiaVery important
- rs793888521A;GFamilial 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
rs28942112 familial hypercholesterolemia
C;T
See discussion at rs28942112
Source and license
Adapted from i5000370 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.