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rs1057519680

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Familial Hypercholesterolemia
Chromosome19
Position11120228
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519680
dbSNP (old)rs1057519680
ClinGenrs1057519680
ebirs1057519680
HLIrs1057519680
Exacrs1057519680
Gnomadrs1057519680
Varsomers1057519680
Maprs1057519680
PheGenIrs1057519680
Biobankrs1057519680
1000 genomesrs1057519680
hgdprs1057519680
ensemblrs1057519680
gopubmedrs1057519680
geneviewrs1057519680
scholarrs1057519680
googlers1057519680
pharmgkbrs1057519680
gwascentralrs1057519680
openSNPrs1057519680
23andMers1057519680
23andMe allrs1057519680
SNPshotrs1057519680
SNPdbers1057519680
MSV3drs1057519680
GWAS Ctlgrs1057519680
Max Magnitude5
ClinVar
Risk rs1057519680(T;T)
Alt rs1057519680(T;T)
Reference Rs1057519680(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230904C>T
CLNSRC
CLNACC RCV000417270.1,