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rs775092314

From SNPedia

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


Make rs775092314(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120411
GeneLDLR
is asnp
is mentioned by
dbSNPrs775092314
ebirs775092314
HLIrs775092314
Exacrs775092314
Varsomers775092314
Maprs775092314
PheGenIrs775092314
hapmaprs775092314
1000 genomesrs775092314
hgdprs775092314
ensemblrs775092314
gopubmedrs775092314
geneviewrs775092314
scholarrs775092314
googlers775092314
pharmgkbrs775092314
gwascentralrs775092314
openSNPrs775092314
23andMers775092314
23andMe allrs775092314
SNP Nexus

SNPshotrs775092314
SNPdbers775092314
MSV3drs775092314
GWAS Ctlgrs775092314
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 rs775092314(C;C)
Alt rs775092314(C;C)
Reference rs775092314(T;T)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231087T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000211671.2,