rs551747280
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;G: Familial Hypercholesterolemia
- Gene
- LDLR
- Location
- Chr 1911,100,237 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadFamilial Hypercholesterolemia
- G;GGoodcommon in clinvar
- G;TBadFamilial Hypercholesterolemia
On SNPedia: (A;G), (G;G), (G;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
aka c.82G>T (p.Glu28Ter or E28X) and also c.82G>A (p.Glu28Lys or E28K), both of which are pathogenic or likely pathogenic in ClinVar for familial hypercholesterolemia; based on ExAC/gnomAD data, this is one of the most frequent FH mutations in both Finnish and Latino populations.
Source and license
Adapted from rs551747280 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.