rs121908029

A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;G: Familial Hypercholesterolemia

Gene
LDLR
Location
Chr 1911,105,588 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadFamilial HypercholesterolemiaVery important · 5.0
  2. C;GBadFamilial HypercholesterolemiaVery important · 5.0
  3. G;GGoodcommon in complete genomicsTypical · 0.0
  4. G;TBadFamilial HypercholesterolemiaVery important · 5.0

On SNPedia: (A;G), (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other LDLR SNPs

All LDLR SNPs

Notes

From SNPedia

Notes

aka c.682G>A, p.Glu228Lys or E228K; also known as FH Mexico and FH French Canadian 3 an additional variant is c.682G>T, p.Glu228Ter or E228X The A variant is reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease 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 rs121908029 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.