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rs730882090

From SNPedia

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


Make rs730882090(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11107420
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882090
ebirs730882090
HLIrs730882090
Exacrs730882090
Varsomers730882090
Maprs730882090
PheGenIrs730882090
hapmaprs730882090
1000 genomesrs730882090
hgdprs730882090
ensemblrs730882090
gopubmedrs730882090
geneviewrs730882090
scholarrs730882090
googlers730882090
pharmgkbrs730882090
gwascentralrs730882090
openSNPrs730882090
23andMers730882090
23andMe allrs730882090
SNP Nexus

SNPshotrs730882090
SNPdbers730882090
MSV3drs730882090
GWAS Ctlgrs730882090
Max Magnitude4
aka c.846C>A (p.Phe282Leu)

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 rs730882090(A;A)
Alt rs730882090(A;A)
Reference rs730882090(C;C)
Significance Probable-Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218096C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000161969.1, RCV000238570.1,