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rs774069731

From SNPedia

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


Make rs774069731(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110773
GeneLDLR
is asnp
is mentioned by
dbSNPrs774069731
ebirs774069731
HLIrs774069731
Exacrs774069731
Varsomers774069731
Maprs774069731
PheGenIrs774069731
hapmaprs774069731
1000 genomesrs774069731
hgdprs774069731
ensemblrs774069731
gopubmedrs774069731
geneviewrs774069731
scholarrs774069731
googlers774069731
pharmgkbrs774069731
gwascentralrs774069731
openSNPrs774069731
23andMers774069731
23andMe allrs774069731
SNP Nexus

SNPshotrs774069731
SNPdbers774069731
MSV3drs774069731
GWAS Ctlgrs774069731
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]