rs28942083
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;G: Familial Hypercholesterolemia
- Gene
- LDLR
- Location
- Chr 1911,120,382 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;ANot ratedNo summary available.
- A;GMost notableBadFamilial Hypercholesterolemia
- G;GGoodcommon in complete genomics
- G;TBadFamilial Hypercholesterolemia
On SNPedia: (A;A), (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.2000G>A, p.Cys667Tyr or C667Y; also known as FH French Canadian 2; note that c.2000G>T (p.Cys667Phe or C667F) is an alternate allele, and it is also considered pathogenic in ClinVar Both are reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
A;A
Familial Hypercholesterolemia
Source and license
Adapted from rs28942083 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.