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rs376207800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs376207800(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100340
GeneLDLR
is asnp
is mentioned by
dbSNPrs376207800
ebirs376207800
HLIrs376207800
Exacrs376207800
Varsomers376207800
Maprs376207800
PheGenIrs376207800
hapmaprs376207800
1000 genomesrs376207800
hgdprs376207800
ensemblrs376207800
gopubmedrs376207800
geneviewrs376207800
scholarrs376207800
googlers376207800
pharmgkbrs376207800
gwascentralrs376207800
openSNPrs376207800
23andMers376207800
23andMe allrs376207800
SNP Nexus

SNPshotrs376207800
SNPdbers376207800
MSV3drs376207800
GWAS Ctlgrs376207800
Max Magnitude4
aka c.185C>T (p.Thr62Met)

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 rs376207800(T;T)
Alt rs376207800(T;T)
Reference rs376207800(C;C)
Significance Untested
Disease Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11211016C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000148579.1, RCV000161951.1, RCV000211598.3,