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rs1060499919

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Chromosome19
Position11105435
GeneLDLR
is asnp
is mentioned by
dbSNPrs1060499919
dbSNP (old)rs1060499919
ClinGenrs1060499919
ebirs1060499919
HLIrs1060499919
Exacrs1060499919
Gnomadrs1060499919
Varsomers1060499919
Maprs1060499919
PheGenIrs1060499919
Biobankrs1060499919
1000 genomesrs1060499919
hgdprs1060499919
ensemblrs1060499919
gopubmedrs1060499919
geneviewrs1060499919
scholarrs1060499919
googlers1060499919
pharmgkbrs1060499919
gwascentralrs1060499919
openSNPrs1060499919
23andMers1060499919
23andMe allrs1060499919
SNPshotrs1060499919
SNPdbers1060499919
MSV3drs1060499919
GWAS Ctlgrs1060499919
Max Magnitude5
ClinVar
Risk rs1060499919(C;C)
Alt rs1060499919(C;C)
Reference Rs1060499919(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216111T>C
CLNSRC
CLNACC RCV000455946.1,