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rs879254572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar


Make rs879254572(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11105456
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254572
dbSNP (classic)rs879254572
ClinGenrs879254572
ebirs879254572
HLIrs879254572
Exacrs879254572
Gnomadrs879254572
Varsomers879254572
LitVarrs879254572
Maprs879254572
PheGenIrs879254572
Biobankrs879254572
1000 genomesrs879254572
hgdprs879254572
ensemblrs879254572
geneviewrs879254572
scholarrs879254572
googlers879254572
pharmgkbrs879254572
gwascentralrs879254572
openSNPrs879254572
23andMers879254572
23andMe allrs879254572
SNPshotrs879254572
SNPdbers879254572
MSV3drs879254572
GWAS Ctlgrs879254572
Max Magnitude5
ClinVar
Risk rs879254572(C;C)
Alt rs879254572(C;C)
Reference Rs879254572(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216132T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237280.1,