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rs774439908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs774439908(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113348
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs774439908
ebirs774439908
HLIrs774439908
Exacrs774439908
Varsomers774439908
Maprs774439908
PheGenIrs774439908
hapmaprs774439908
1000 genomesrs774439908
hgdprs774439908
ensemblrs774439908
gopubmedrs774439908
geneviewrs774439908
scholarrs774439908
googlers774439908
pharmgkbrs774439908
gwascentralrs774439908
openSNPrs774439908
23andMers774439908
23andMe allrs774439908
SNP Nexus

SNPshotrs774439908
SNPdbers774439908
MSV3drs774439908
GWAS Ctlgrs774439908
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 rs774439908(G;G)
Alt rs774439908(G;G)
Reference rs774439908(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224024C>A; NC_000019.9:g.11224024C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000237959.1, RCV000238336.1,