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rs730882082

From SNPedia

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


Make rs730882082(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105315
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882082
ebirs730882082
HLIrs730882082
Exacrs730882082
Varsomers730882082
Maprs730882082
PheGenIrs730882082
hapmaprs730882082
1000 genomesrs730882082
hgdprs730882082
ensemblrs730882082
gopubmedrs730882082
geneviewrs730882082
scholarrs730882082
googlers730882082
pharmgkbrs730882082
gwascentralrs730882082
openSNPrs730882082
23andMers730882082
23andMe allrs730882082
SNP Nexus

SNPshotrs730882082
SNPdbers730882082
MSV3drs730882082
GWAS Ctlgrs730882082
Max Magnitude4
aka c.409G>A (p.Gly137Ser)

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 rs730882082(A,T;A,T)
Alt rs730882082(A,T;A,T)
Reference rs730882082(G;G)
Significance Probable-Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215991G>A; NC_000019.9:g.11215991G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161956.1, RCV000237389.1, RCV000237998.1,