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rs777326720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs777326720(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105426
GeneLDLR
is asnp
is mentioned by
dbSNPrs777326720
ebirs777326720
HLIrs777326720
Exacrs777326720
Varsomers777326720
Maprs777326720
PheGenIrs777326720
hapmaprs777326720
1000 genomesrs777326720
hgdprs777326720
ensemblrs777326720
gopubmedrs777326720
geneviewrs777326720
scholarrs777326720
googlers777326720
pharmgkbrs777326720
gwascentralrs777326720
openSNPrs777326720
23andMers777326720
23andMe allrs777326720
SNP Nexus

SNPshotrs777326720
SNPdbers777326720
MSV3drs777326720
GWAS Ctlgrs777326720
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]