rs137853965
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is -;C: Familial Hypercholesterolemia
- Gene
- LDLR
- Location
- Chr 1911,120,443 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;CMost notableBadFamilial Hypercholesterolemia
- C;CNot rateddominant mutation leading to Familial Hypercholesterolemia
On SNPedia: (-;-), (-;C), (C;C). 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
The C allele of this SNP in the low density lipoprotein receptor LDLR gene, which is a dominant insertion mutation also known as p.N688QfsX29, causes familial hypercholesterolemia.
Source and license
Adapted from rs137853965 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.