rs121908043
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;C: Familial Hypercholesterolemia
- Gene
- LDLR
- Location
- Chr 1911,113,307 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadFamilial Hypercholesterolemia
- C;CGoodcommon in clinvar
- C;TBadFamilial Hypercholesterolemia
On SNPedia: (A;C), (C;C), (C;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.1216C>A or p.Arg406=; also known as c.1216C>T or p.Arg406Trp The A variant is reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease, based on the introduction of a novel splice site. The T variant of this SNP in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.
Source and license
Adapted from rs121908043 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.