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rs763625913

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs763625913(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11123341
GeneLDLR
is asnp
is mentioned by
dbSNPrs763625913
ebirs763625913
HLIrs763625913
Exacrs763625913
Varsomers763625913
Maprs763625913
PheGenIrs763625913
hapmaprs763625913
1000 genomesrs763625913
hgdprs763625913
ensemblrs763625913
gopubmedrs763625913
geneviewrs763625913
scholarrs763625913
googlers763625913
pharmgkbrs763625913
gwascentralrs763625913
openSNPrs763625913
23andMers763625913
23andMe allrs763625913
SNP Nexus

SNPshotrs763625913
SNPdbers763625913
MSV3drs763625913
GWAS Ctlgrs763625913
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 rs763625913(T;T)
Alt rs763625913(T;T)
Reference rs763625913(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11234017C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237546.1,