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rs755667663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs755667663(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113678
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs755667663
ebirs755667663
HLIrs755667663
Exacrs755667663
Varsomers755667663
Maprs755667663
PheGenIrs755667663
hapmaprs755667663
1000 genomesrs755667663
hgdprs755667663
ensemblrs755667663
gopubmedrs755667663
geneviewrs755667663
scholarrs755667663
googlers755667663
pharmgkbrs755667663
gwascentralrs755667663
openSNPrs755667663
23andMers755667663
23andMe allrs755667663
SNP Nexus

SNPshotrs755667663
SNPdbers755667663
MSV3drs755667663
GWAS Ctlgrs755667663
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 rs755667663(T;T)
Alt rs755667663(T;T)
Reference rs755667663(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224354C>A; NC_000019.9:g.11224354C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237801.1, RCV000238372.1,