rs28942084
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;C: Familial Hypercholesterolemia
- Gene
- LDLR
- Location
- Chr 1911,120,436 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadFamilial Hypercholesterolemia
- C;CGoodcommon in complete genomics
- C;TBadFamilial Hypercholesterolemia
- T;TNot ratedhypercholesterolemia risk; homozygote
On SNPedia: (A;C), (C;C), (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 LDLR SNPs
- rs121908027-;-familial hypercholesterolemiaVery important
- rs5933C;GFamilial HypercholesterolemiaVery important
- rs2228671A;CFamilial HypercholesterolemiaVery important
- rs2569548C;TFamilial HypercholesterolemiaVery important
- rs11547917A;CFamilial HypercholesterolemiaVery important
- rs13306512A;CFamilial HypercholesterolemiaVery important
- rs13306515A;CFamilial HypercholesterolemiaVery important
- rs28941776A;GFamilial HypercholesterolemiaVery important
Notes
From SNPedia
Notes
rs28942084, also known as P685L or Pro664Leu, and as FH Zambia, is a SNP in the LDLR low density lipoprotein receptor gene. It has been associated with cases of familial hypercholesterolemia (FH). The risk allele is rs28942084(T).
Source and license
Adapted from rs28942084 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.