Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs730882102(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113590
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs730882102
ebirs730882102
HLIrs730882102
Exacrs730882102
Varsomers730882102
Maprs730882102
PheGenIrs730882102
hapmaprs730882102
1000 genomesrs730882102
hgdprs730882102
ensemblrs730882102
gopubmedrs730882102
geneviewrs730882102
scholarrs730882102
googlers730882102
pharmgkbrs730882102
gwascentralrs730882102
openSNPrs730882102
23andMers730882102
23andMe allrs730882102
SNP Nexus

SNPshotrs730882102
SNPdbers730882102
MSV3drs730882102
GWAS Ctlgrs730882102
Max Magnitude4
aka c.1414G>T, p.Asp472Tyr or D472Y

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk rs730882102(T;T)
Alt rs730882102(T;T)
Reference rs730882102(G;G)
Significance Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224266G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000161988.2, RCV000237883.1,