rs28942111
A SNP in the PCSK9 gene on chromosome 1. Its most notable genotype is A;T: Familial hypercholesterolemia
- Gene
- PCSK9
- Location
- Chr 155,044,016 (GRCh38)
- Highest magnitude
- 4.5Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;TMost notableBadFamilial hypercholesterolemia
- T;TGoodcommon in clinvar
On SNPedia: (A;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
- i5000370C;Tfamilial hypercholesterolemiaVery important
- rs11591147T;T2-3 fold lower risk of heart diseaseVery 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
rs28942111, also known as c.381T>A, p.Ser127Arg and S127R, is one of the first missense mutations in the PCSK9 gene found to lead to autosomal dominantly inherited familial hypercholesterolemia. See OMIM 607786.0001 for more information. A 2019 news alert discusses a possible mechanism of action for this (S127R) mutation.
A;T
The rs28942111(A) allele is reported to be a dominant mutation leading to familial hypercholesterolemia. See rs28942111 for more information.
Source and license
Adapted from rs28942111 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.