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rs755757866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs755757866(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110730
GeneLDLR
is asnp
is mentioned by
dbSNPrs755757866
ebirs755757866
HLIrs755757866
Exacrs755757866
Varsomers755757866
Maprs755757866
PheGenIrs755757866
hapmaprs755757866
1000 genomesrs755757866
hgdprs755757866
ensemblrs755757866
gopubmedrs755757866
geneviewrs755757866
scholarrs755757866
googlers755757866
pharmgkbrs755757866
gwascentralrs755757866
openSNPrs755757866
23andMers755757866
23andMe allrs755757866
SNP Nexus

SNPshotrs755757866
SNPdbers755757866
MSV3drs755757866
GWAS Ctlgrs755757866
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 rs755757866(T;T)
Alt rs755757866(T;T)
Reference rs755757866(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221406G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237709.1,