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rs767618089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs767618089(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107472
GeneLDLR
is asnp
is mentioned by
dbSNPrs767618089
ebirs767618089
HLIrs767618089
Exacrs767618089
Varsomers767618089
Maprs767618089
PheGenIrs767618089
hapmaprs767618089
1000 genomesrs767618089
hgdprs767618089
ensemblrs767618089
gopubmedrs767618089
geneviewrs767618089
scholarrs767618089
googlers767618089
pharmgkbrs767618089
gwascentralrs767618089
openSNPrs767618089
23andMers767618089
23andMe allrs767618089
SNP Nexus

SNPshotrs767618089
SNPdbers767618089
MSV3drs767618089
GWAS Ctlgrs767618089
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 rs767618089(G;G)
Alt rs767618089(G;G)
Reference rs767618089(A;A)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218148A>G; NC_000019.9:g.11218148A>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237850.1, RCV000238395.1,