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rs730882100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs730882100(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113385
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730882100
ebirs730882100
HLIrs730882100
Exacrs730882100
Varsomers730882100
Maprs730882100
PheGenIrs730882100
hapmaprs730882100
1000 genomesrs730882100
hgdprs730882100
ensemblrs730882100
gopubmedrs730882100
geneviewrs730882100
scholarrs730882100
googlers730882100
pharmgkbrs730882100
gwascentralrs730882100
openSNPrs730882100
23andMers730882100
23andMe allrs730882100
SNP Nexus

SNPshotrs730882100
SNPdbers730882100
MSV3drs730882100
GWAS Ctlgrs730882100
Max Magnitude4
aka c.1294C>G (p.Leu432Val)

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 rs730882100(G;G)
Alt rs730882100(G;G)
Reference rs730882100(C;C)
Significance Probable-Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224061C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000161983.1, RCV000237224.1,