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rs769737896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs769737896(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110759
GeneLDLR
is asnp
is mentioned by
dbSNPrs769737896
ebirs769737896
HLIrs769737896
Exacrs769737896
Varsomers769737896
Maprs769737896
PheGenIrs769737896
hapmaprs769737896
1000 genomesrs769737896
hgdprs769737896
ensemblrs769737896
gopubmedrs769737896
geneviewrs769737896
scholarrs769737896
googlers769737896
pharmgkbrs769737896
gwascentralrs769737896
openSNPrs769737896
23andMers769737896
23andMe allrs769737896
SNP Nexus

SNPshotrs769737896
SNPdbers769737896
MSV3drs769737896
GWAS Ctlgrs769737896
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 rs769737896(T;T)
Alt rs769737896(T;T)
Reference rs769737896(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221435C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000211692.2,