rs201102461
A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;G: Familial Hypercholesterolemia (possible but uncertain)
- Gene
- LDLR
- Location
- Chr 1911,105,250 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
Show notes, about 130 words
aka c.344G>A (p.Arg115His) There are conflicting opinions about whether rs201102461(A) is a FH-associated disease variant. In ClinVar, a slight majority (three out of five) of submitters state that rs201102461 is pathogenic or likely pathogenic. In the LDLR LOVD database, it is classified as disease-associated, and there are four FH patients listed with it. And out of 9 theoretical programs tested, 6 predict that this variant is pathogenic (DANN, GERP, dbNSFP.FATHMM, MetaLR, MetaSVM and MutationTaster) while 3 don't. Overall, the consensus seems to lean towards this variant being pathogenic, but there clearly is uncertainty about it, and even if it is pathogenic, it could have quite variable penetrance.
A;G
See main rs-page for discussion of whether this is truly a FH-causing mutation.
Source and license
Adapted from rs201102461 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.