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rs1057519676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Chromosome19
Position11116926
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519676
dbSNP (old)rs1057519676
ClinGenrs1057519676
ebirs1057519676
HLIrs1057519676
Exacrs1057519676
Gnomadrs1057519676
Varsomers1057519676
Maprs1057519676
PheGenIrs1057519676
Biobankrs1057519676
1000 genomesrs1057519676
hgdprs1057519676
ensemblrs1057519676
gopubmedrs1057519676
geneviewrs1057519676
scholarrs1057519676
googlers1057519676
pharmgkbrs1057519676
gwascentralrs1057519676
openSNPrs1057519676
23andMers1057519676
23andMe allrs1057519676
SNPshotrs1057519676
SNPdbers1057519676
MSV3drs1057519676
GWAS Ctlgrs1057519676
Max Magnitude0
ClinVar
Risk rs1057519676(T;T)
Alt rs1057519676(T;T)
Reference Rs1057519676(CG;CG)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227602_11227603delCGinsT
CLNSRC
CLNACC RCV000417277.1,