rs28942112
A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is C;T: Familial Hypercholesterolemia
- Gene
- PCSK9
- Location
- Chr 155,052,400 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial Hypercholesterolemia
- T;TGoodcommon in clinvar
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
- 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
- rs72646508C;TLowered LDL-C and reduced risk for coronary eventsImportant
Notes
From SNPedia
Notes
rs28942112, also known as c.646T>C, p.Phe216Leu and F216L, is one of the first mutations in the PCSK9 gene reported to lead to autosomal dominantly inherited familial hypercholesterolemia. See OMIM 607786.0002 for more information. This SNP is referred to as i5000370 by 23andMe.
Source and license
Adapted from rs28942112 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.