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rs730882109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs730882109(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11116900
GeneLDLR
is asnp
is mentioned by
dbSNPrs730882109
ebirs730882109
HLIrs730882109
Exacrs730882109
Varsomers730882109
Maprs730882109
PheGenIrs730882109
hapmaprs730882109
1000 genomesrs730882109
hgdprs730882109
ensemblrs730882109
gopubmedrs730882109
geneviewrs730882109
scholarrs730882109
googlers730882109
pharmgkbrs730882109
gwascentralrs730882109
openSNPrs730882109
23andMers730882109
23andMe allrs730882109
SNP Nexus

SNPshotrs730882109
SNPdbers730882109
MSV3drs730882109
GWAS Ctlgrs730882109
Max Magnitude4
aka c.1747C>T, p.His583Tyr or H583Y; and also as c.1747C>G, p.His583Asp or H583D

The T variant is reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

The G variant of this SNP 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 rs730882109(G,T;G,T)
Alt rs730882109(G,T;G,T)
Reference rs730882109(C;C)
Significance Other
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227576C>G; NC_000019.9:g.11227576C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161999.1, RCV000237247.1, RCV000182342.2, RCV000211604.2,