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rs1057519655

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Chromosome19
Position11105516
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519655
dbSNP (old)rs1057519655
ClinGenrs1057519655
ebirs1057519655
HLIrs1057519655
Exacrs1057519655
Gnomadrs1057519655
Varsomers1057519655
Maprs1057519655
PheGenIrs1057519655
Biobankrs1057519655
1000 genomesrs1057519655
hgdprs1057519655
ensemblrs1057519655
gopubmedrs1057519655
geneviewrs1057519655
scholarrs1057519655
googlers1057519655
pharmgkbrs1057519655
gwascentralrs1057519655
openSNPrs1057519655
23andMers1057519655
23andMe allrs1057519655
SNPshotrs1057519655
SNPdbers1057519655
MSV3drs1057519655
GWAS Ctlgrs1057519655
Max Magnitude5
ClinVar
Risk rs1057519655(G;G)
Alt rs1057519655(G;G)
Reference Rs1057519655(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216192T>G
CLNSRC
CLNACC RCV000417279.1,