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rs730882108

From SNPedia

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


Make rs730882108(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113761
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730882108
ebirs730882108
HLIrs730882108
Exacrs730882108
Varsomers730882108
Maprs730882108
PheGenIrs730882108
hapmaprs730882108
1000 genomesrs730882108
hgdprs730882108
ensemblrs730882108
gopubmedrs730882108
geneviewrs730882108
scholarrs730882108
googlers730882108
pharmgkbrs730882108
gwascentralrs730882108
openSNPrs730882108
23andMers730882108
23andMe allrs730882108
SNP Nexus

SNPshotrs730882108
SNPdbers730882108
MSV3drs730882108
GWAS Ctlgrs730882108
Max Magnitude4
aka c.1585G>C (p.Gly529Arg)

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 rs730882108(C;C)
Alt rs730882108(C;C)
Reference rs730882108(G;G)
Significance Untested
Disease not provided
Variation info
Gene LDLR MIR6886
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.11224437G>C
CLNSRC
CLNACC RCV000161996.1,