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rs778408161

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
(T;T) 0 common/normal


Make rs778408161(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11117000
GeneLDLR
is asnp
is mentioned by
dbSNPrs778408161
ebirs778408161
HLIrs778408161
Exacrs778408161
Varsomers778408161
Maprs778408161
PheGenIrs778408161
hapmaprs778408161
1000 genomesrs778408161
hgdprs778408161
ensemblrs778408161
gopubmedrs778408161
geneviewrs778408161
scholarrs778408161
googlers778408161
pharmgkbrs778408161
gwascentralrs778408161
openSNPrs778408161
23andMers778408161
23andMe allrs778408161
SNP Nexus

SNPshotrs778408161
SNPdbers778408161
MSV3drs778408161
GWAS Ctlgrs778408161
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 rs778408161(C;C)
Alt rs778408161(C;C)
Reference rs778408161(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227676T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237150.1,