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rs730882105

From SNPedia

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


Make rs730882105(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113746
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730882105
ebirs730882105
HLIrs730882105
Exacrs730882105
Varsomers730882105
Maprs730882105
PheGenIrs730882105
hapmaprs730882105
1000 genomesrs730882105
hgdprs730882105
ensemblrs730882105
gopubmedrs730882105
geneviewrs730882105
scholarrs730882105
googlers730882105
pharmgkbrs730882105
gwascentralrs730882105
openSNPrs730882105
23andMers730882105
23andMe allrs730882105
SNP Nexus

SNPshotrs730882105
SNPdbers730882105
MSV3drs730882105
GWAS Ctlgrs730882105
Max Magnitude4
aka c.1570G>A (p.Val524Met)

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 rs730882105(A;A)
Alt rs730882105(A;A)
Reference rs730882105(G;G)
Significance Probable-Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224422G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000161993.1, RCV000237418.1,