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rs762815611

From SNPedia

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


Make rs762815611(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120212
GeneLDLR
is asnp
is mentioned by
dbSNPrs762815611
ebirs762815611
HLIrs762815611
Exacrs762815611
Varsomers762815611
Maprs762815611
PheGenIrs762815611
hapmaprs762815611
1000 genomesrs762815611
hgdprs762815611
ensemblrs762815611
gopubmedrs762815611
geneviewrs762815611
scholarrs762815611
googlers762815611
pharmgkbrs762815611
gwascentralrs762815611
openSNPrs762815611
23andMers762815611
23andMe allrs762815611
SNP Nexus

SNPshotrs762815611
SNPdbers762815611
MSV3drs762815611
GWAS Ctlgrs762815611
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 rs762815611(A;A)
Alt rs762815611(A;A)
Reference rs762815611(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230888C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237688.1,