Have questions? Visit https://www.reddit.com/r/SNPedia

rs368562025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs368562025(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113329
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs368562025
ebirs368562025
HLIrs368562025
Exacrs368562025
Varsomers368562025
Maprs368562025
PheGenIrs368562025
hapmaprs368562025
1000 genomesrs368562025
hgdprs368562025
ensemblrs368562025
gopubmedrs368562025
geneviewrs368562025
scholarrs368562025
googlers368562025
pharmgkbrs368562025
gwascentralrs368562025
openSNPrs368562025
23andMers368562025
23andMe allrs368562025
SNP Nexus

SNPshotrs368562025
SNPdbers368562025
MSV3drs368562025
GWAS Ctlgrs368562025
Max Magnitude4
aka c.1238C>T (p.Thr413Met)

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 rs368562025(T;T)
Alt rs368562025(T;T)
Reference rs368562025(C;C)
Significance Other
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224005C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000148582.1, RCV000211581.3,