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

rs730882089

From SNPedia

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


Make rs730882089(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107401
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882089
ebirs730882089
HLIrs730882089
Exacrs730882089
Varsomers730882089
Maprs730882089
PheGenIrs730882089
hapmaprs730882089
1000 genomesrs730882089
hgdprs730882089
ensemblrs730882089
gopubmedrs730882089
geneviewrs730882089
scholarrs730882089
googlers730882089
pharmgkbrs730882089
gwascentralrs730882089
openSNPrs730882089
23andMers730882089
23andMe allrs730882089
SNP Nexus

SNPshotrs730882089
SNPdbers730882089
MSV3drs730882089
GWAS Ctlgrs730882089
Max Magnitude4
aka c.827G>C (p.Cys276Ser)

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 rs730882089(A,C;A,C)
Alt rs730882089(A,C;A,C)
Reference rs730882089(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11218077G>A; NC_000019.9:g.11218077G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237878.1, RCV000161967.1,