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rs730882077

From SNPedia

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


Make rs730882077(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100298
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882077
ebirs730882077
HLIrs730882077
Exacrs730882077
Varsomers730882077
Maprs730882077
PheGenIrs730882077
hapmaprs730882077
1000 genomesrs730882077
hgdprs730882077
ensemblrs730882077
gopubmedrs730882077
geneviewrs730882077
scholarrs730882077
googlers730882077
pharmgkbrs730882077
gwascentralrs730882077
openSNPrs730882077
23andMers730882077
23andMe allrs730882077
SNP Nexus

SNPshotrs730882077
SNPdbers730882077
MSV3drs730882077
GWAS Ctlgrs730882077
Max Magnitude4
aka c.143G>A (p.Gly48Asp)

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 rs730882077(A;A)
Alt rs730882077(A;A)
Reference rs730882077(G;G)
Significance Untested
Disease not provided
Variation info
Gene LDLR
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.11210974G>A
CLNSRC
CLNACC RCV000161950.1,