rs121908027
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is -;-: familial hypercholesterolemia
- Gene
- LDLR
- Location
- Chr 1911,105,558 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadfamilial hypercholesterolemia
- -;GGTBadfamilial hypercholesterolemia
- -;TGGBadFamilial Hypercholesterolemia
- GGT;GGTGoodcommon in complete genomics
- TGG;TGGGoodcommon in clinvar
On SNPedia: (-;-), (-;GGT), (-;TGG), (GGT;GGT), (TGG;TGG). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other LDLR SNPs
- 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
- rs28942078A;GFamilial HypercholesterolemiaVery important
Notes
From SNPedia
Notes
rs121908027, also known as 652delGGT, G197del, among other terms, is a mutation in the LDLR gene on chromosome 19. This mutation is known as FH Lithuania, since it appears to be a founder mutation for familial hypercholesterolemia originating in the 14th century. It is reported to the be most common FH mutation in Ashkenazi Jews, found in up to 35% of FH families in Israel. rs121908027 is named i4000356 in 23andMe data.
-;-
see discussion at rs121908027
-;GGT
see discussion at rs121908027
Source and license
Adapted from rs121908027 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.