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rs730882106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs730882106(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113752
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730882106
ebirs730882106
HLIrs730882106
Exacrs730882106
Varsomers730882106
Maprs730882106
PheGenIrs730882106
hapmaprs730882106
1000 genomesrs730882106
hgdprs730882106
ensemblrs730882106
gopubmedrs730882106
geneviewrs730882106
scholarrs730882106
googlers730882106
pharmgkbrs730882106
gwascentralrs730882106
openSNPrs730882106
23andMers730882106
23andMe allrs730882106
SNP Nexus

SNPshotrs730882106
SNPdbers730882106
MSV3drs730882106
GWAS Ctlgrs730882106
Max Magnitude4
aka c.1576C>T (p.Pro526Ser)

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 rs730882106(T;T)
Alt rs730882106(T;T)
Reference rs730882106(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia not provided
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia not provided
Reversed 0
HGVS NC_000019.9:g.11224428C>A; NC_000019.9:g.11224428C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237644.1, RCV000161994.1, RCV000238217.1,