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rs1057519683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar
Chromosome19
Position11120467
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519683
dbSNP (old)rs1057519683
ClinGenrs1057519683
ebirs1057519683
HLIrs1057519683
Exacrs1057519683
Gnomadrs1057519683
Varsomers1057519683
LitVarrs1057519683
Maprs1057519683
PheGenIrs1057519683
Biobankrs1057519683
1000 genomesrs1057519683
hgdprs1057519683
ensemblrs1057519683
gopubmedrs1057519683
geneviewrs1057519683
scholarrs1057519683
googlers1057519683
pharmgkbrs1057519683
gwascentralrs1057519683
openSNPrs1057519683
23andMers1057519683
23andMe allrs1057519683
SNPshotrs1057519683
SNPdbers1057519683
MSV3drs1057519683
GWAS Ctlgrs1057519683
Max Magnitude5
ClinVar
Risk rs1057519683(-;-)
Alt rs1057519683(-;-)
Reference Rs1057519683(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231143delC
CLNSRC
CLNACC RCV000417239.1,