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rs377271627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs377271627(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position11102769
GeneLDLR
is asnp
is mentioned by
dbSNPrs377271627
ebirs377271627
HLIrs377271627
Exacrs377271627
Varsomers377271627
Maprs377271627
PheGenIrs377271627
hapmaprs377271627
1000 genomesrs377271627
hgdprs377271627
ensemblrs377271627
gopubmedrs377271627
geneviewrs377271627
scholarrs377271627
googlers377271627
pharmgkbrs377271627
gwascentralrs377271627
openSNPrs377271627
23andMers377271627
23andMe allrs377271627
SNP Nexus

SNPshotrs377271627
SNPdbers377271627
MSV3drs377271627
GWAS Ctlgrs377271627
Max Magnitude4

aka c.296C>G, p.Ser99Ter or S99X

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

ClinVar
Risk rs377271627(G;G)
Alt rs377271627(G;G)
Reference rs377271627(C;C)
Significance Pathogenic
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213445C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000148574.1, RCV000238369.1,