rs121908034

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

Gene
LDLR
Location
Chr 1911,105,470 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;CMost notableBadFamilial HypercholesterolemiaVery important · 5.0
  2. C;CGoodnormalTypical · 0.0
  3. C;GBadFamilial HypercholesterolemiaVery important · 5.0
  4. G;GBadhypercholesterolemia risk; homozygoteWorth knowing · 2.9

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

Other LDLR SNPs

All LDLR SNPs

Notes

From SNPedia

Notes

rs121908034, also known as c.564C>G, Y188X or Tyr167Ter, and as FH Druze, is a SNP in the LDLR low density lipoprotein receptor gene. For a clinical case example of this SNP, see 'Clinical Case 1' in Box 1 of . See also OMIM 606945.0045.

G;G

Note possibility of "SNP-flip" due to misreported orientation; the rs121908034(G;G) genotype is exceedingly rare, so if you're seeing these comments, either you're using a chip (like many from 23andMe) that has erroneously flipped the orientation of this SNP, and you actually carry the far more common (C;C) genotype, or far less likely, you actually carry this genotype and the risk for familial hypercholesterolemia.

Source and license

Adapted from rs121908034 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.