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rs771019366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs771019366(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11102742
GeneLDLR
is asnp
is mentioned by
dbSNPrs771019366
ebirs771019366
HLIrs771019366
Exacrs771019366
Varsomers771019366
Maprs771019366
PheGenIrs771019366
hapmaprs771019366
1000 genomesrs771019366
hgdprs771019366
ensemblrs771019366
gopubmedrs771019366
geneviewrs771019366
scholarrs771019366
googlers771019366
pharmgkbrs771019366
gwascentralrs771019366
openSNPrs771019366
23andMers771019366
23andMe allrs771019366
SNP Nexus

SNPshotrs771019366
SNPdbers771019366
MSV3drs771019366
GWAS Ctlgrs771019366
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]
ClinVar
Risk rs771019366(G;G)
Alt rs771019366(G;G)
Reference rs771019366(A;A)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213418A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000211676.2,