Have questions? Visit https://www.reddit.com/r/SNPedia

rs763147599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common/normal


Make rs763147599(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116927
GeneLDLR
is asnp
is mentioned by
dbSNPrs763147599
ebirs763147599
HLIrs763147599
Exacrs763147599
Varsomers763147599
Maprs763147599
PheGenIrs763147599
hapmaprs763147599
1000 genomesrs763147599
hgdprs763147599
ensemblrs763147599
gopubmedrs763147599
geneviewrs763147599
scholarrs763147599
googlers763147599
pharmgkbrs763147599
gwascentralrs763147599
openSNPrs763147599
23andMers763147599
23andMe allrs763147599
SNP Nexus

SNPshotrs763147599
SNPdbers763147599
MSV3drs763147599
GWAS Ctlgrs763147599
Max Magnitude4
This variant 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.[PMID 27050191]