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rs730882094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs730882094(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110658
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882094
ebirs730882094
HLIrs730882094
Exacrs730882094
Varsomers730882094
Maprs730882094
PheGenIrs730882094
hapmaprs730882094
1000 genomesrs730882094
hgdprs730882094
ensemblrs730882094
gopubmedrs730882094
geneviewrs730882094
scholarrs730882094
googlers730882094
pharmgkbrs730882094
gwascentralrs730882094
openSNPrs730882094
23andMers730882094
23andMe allrs730882094
SNP Nexus

SNPshotrs730882094
SNPdbers730882094
MSV3drs730882094
GWAS Ctlgrs730882094
Max Magnitude4
aka c.947A>G (p.Asn316Ser)

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 rs730882094(G;G)
Alt rs730882094(G;G)
Reference rs730882094(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11221334A>C; NC_000019.9:g.11221334A>G
CLNSRC LDLR @ LOVD
CLNACC RCV000238355.1, RCV000161974.1, RCV000237335.1,