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rs730882083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs730882083(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105316
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882083
ebirs730882083
HLIrs730882083
Exacrs730882083
Varsomers730882083
Maprs730882083
PheGenIrs730882083
hapmaprs730882083
1000 genomesrs730882083
hgdprs730882083
ensemblrs730882083
gopubmedrs730882083
geneviewrs730882083
scholarrs730882083
googlers730882083
pharmgkbrs730882083
gwascentralrs730882083
openSNPrs730882083
23andMers730882083
23andMe allrs730882083
SNP Nexus

SNPshotrs730882083
SNPdbers730882083
MSV3drs730882083
GWAS Ctlgrs730882083
Max Magnitude4
aka c.410G>T (p.Gly137Val)

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 rs730882083(T;T)
Alt rs730882083(T;T)
Reference rs730882083(G;G)
Significance Untested
Disease not provided
Variation info
Gene LDLR
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.11215992G>T
CLNSRC
CLNACC RCV000161957.1,