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rs587776886

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs587776886(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position11120608
GeneLDLR
is asnp
is mentioned by
dbSNPrs587776886
ebirs587776886
HLIrs587776886
Exacrs587776886
Varsomers587776886
Maprs587776886
PheGenIrs587776886
hapmaprs587776886
1000 genomesrs587776886
hgdprs587776886
ensemblrs587776886
gopubmedrs587776886
geneviewrs587776886
scholarrs587776886
googlers587776886
pharmgkbrs587776886
gwascentralrs587776886
openSNPrs587776886
23andMers587776886
23andMe allrs587776886
SNP Nexus

SNPshotrs587776886
SNPdbers587776886
MSV3drs587776886
GWAS Ctlgrs587776886
Max Magnitude4

aka c.2140+86C>G

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

ClinVar
Risk rs587776886(G;G)
Alt rs587776886(G;G)
Reference rs587776886(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231284C>G
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000023602.3,