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rs1057519677

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Chromosome19
Position11120099
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519677
dbSNP (old)rs1057519677
ClinGenrs1057519677
ebirs1057519677
HLIrs1057519677
Exacrs1057519677
Gnomadrs1057519677
Varsomers1057519677
Maprs1057519677
PheGenIrs1057519677
Biobankrs1057519677
1000 genomesrs1057519677
hgdprs1057519677
ensemblrs1057519677
gopubmedrs1057519677
geneviewrs1057519677
scholarrs1057519677
googlers1057519677
pharmgkbrs1057519677
gwascentralrs1057519677
openSNPrs1057519677
23andMers1057519677
23andMe allrs1057519677
SNPshotrs1057519677
SNPdbers1057519677
MSV3drs1057519677
GWAS Ctlgrs1057519677
Max Magnitude5
ClinVar
Risk rs1057519677(G;G)
Alt rs1057519677(G;G)
Reference Rs1057519677(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230775T>G
CLNSRC
CLNACC RCV000417315.1,