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rs775924858

From SNPedia

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


Make rs775924858(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11113450
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs775924858
ebirs775924858
HLIrs775924858
Exacrs775924858
Varsomers775924858
Maprs775924858
PheGenIrs775924858
hapmaprs775924858
1000 genomesrs775924858
hgdprs775924858
ensemblrs775924858
gopubmedrs775924858
geneviewrs775924858
scholarrs775924858
googlers775924858
pharmgkbrs775924858
gwascentralrs775924858
openSNPrs775924858
23andMers775924858
23andMe allrs775924858
SNP Nexus

SNPshotrs775924858
SNPdbers775924858
MSV3drs775924858
GWAS Ctlgrs775924858
Max Magnitude4
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 rs775924858(A;A)
Alt rs775924858(A;A)
Reference rs775924858(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224126G>A; NC_000019.9:g.11224126G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237640.1, RCV000238050.1,