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rs376459828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in clinvar
Make rs376459828(G;T)
Make rs376459828(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105496
GeneLDLR
is asnp
is mentioned by
dbSNPrs376459828
ebirs376459828
HLIrs376459828
Exacrs376459828
Varsomers376459828
Maprs376459828
PheGenIrs376459828
hapmaprs376459828
1000 genomesrs376459828
hgdprs376459828
ensemblrs376459828
gopubmedrs376459828
geneviewrs376459828
scholarrs376459828
googlers376459828
pharmgkbrs376459828
gwascentralrs376459828
openSNPrs376459828
23andMers376459828
23andMe allrs376459828
SNP Nexus

SNPshotrs376459828
SNPdbers376459828
MSV3drs376459828
GWAS Ctlgrs376459828
Max Magnitude4
aka c.590G>A, p.Cys197Tyr or C197Y

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

ClinVar
Risk rs376459828(A,T;A,T)
Alt rs376459828(A,T;A,T)
Reference rs376459828(G;G)
Significance Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216172G>A; NC_000019.9:g.11216172G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000182340.1, RCV000237811.1, RCV000238173.1,