rs2569548
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is C;T: Familial Hypercholesterolemia
- Gene
- LDLR
- Location
- Chr 1911,120,435 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadFamilial Hypercholesterolemia
- C;CGoodcommon in clinvar
- A;CBadFamilial Hypercholesterolemia
SNPedia records rs2569548 on the minus strand: (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageC;T 0% C;C 100% A;C 0%
- European ancestry (Utah)C;T 0% C;C 100% A;C 0%
- Han Chinese (Beijing)C;T 0% C;C 100% A;C 0%
- Japanese (Tokyo)C;T 0% C;C 100% A;C 0%
- Yoruba (Nigeria)C;T 0% C;C 100% A;C 0%
Related
Other LDLR SNPs
- rs121908027-;-familial hypercholesterolemiaVery important
- rs5933C;GFamilial HypercholesterolemiaVery important
- rs2228671A;CFamilial HypercholesterolemiaVery important
- rs11547917A;CFamilial HypercholesterolemiaVery important
- rs13306512A;CFamilial HypercholesterolemiaVery important
- rs13306515A;CFamilial HypercholesterolemiaVery important
- rs28941776A;GFamilial HypercholesterolemiaVery important
- rs28942078A;GFamilial HypercholesterolemiaVery important
Source and license
Adapted from rs2569548 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.