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rs730882081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs730882081(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105298
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882081
ebirs730882081
HLIrs730882081
Exacrs730882081
Varsomers730882081
Maprs730882081
PheGenIrs730882081
hapmaprs730882081
1000 genomesrs730882081
hgdprs730882081
ensemblrs730882081
gopubmedrs730882081
geneviewrs730882081
scholarrs730882081
googlers730882081
pharmgkbrs730882081
gwascentralrs730882081
openSNPrs730882081
23andMers730882081
23andMe allrs730882081
SNP Nexus

SNPshotrs730882081
SNPdbers730882081
MSV3drs730882081
GWAS Ctlgrs730882081
Max Magnitude4
aka c.392A>G (p.Asp131Gly)

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 rs730882081(G;G)
Alt rs730882081(G;G)
Reference rs730882081(A;A)
Significance Untested
Disease not provided
Variation info
Gene LDLR
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.11215974A>G
CLNSRC
CLNACC RCV000161955.1,