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rs1057519652

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar
Chromosome19
Position11102675
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519652
dbSNP (old)rs1057519652
ClinGenrs1057519652
ebirs1057519652
HLIrs1057519652
Exacrs1057519652
Gnomadrs1057519652
Varsomers1057519652
Maprs1057519652
PheGenIrs1057519652
Biobankrs1057519652
1000 genomesrs1057519652
hgdprs1057519652
ensemblrs1057519652
gopubmedrs1057519652
geneviewrs1057519652
scholarrs1057519652
googlers1057519652
pharmgkbrs1057519652
gwascentralrs1057519652
openSNPrs1057519652
23andMers1057519652
23andMe allrs1057519652
SNPshotrs1057519652
SNPdbers1057519652
MSV3drs1057519652
GWAS Ctlgrs1057519652
Max Magnitude5
ClinVar
Risk rs1057519652(C;C)
Alt rs1057519652(C;C)
Reference Rs1057519652(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11213351T>C
CLNSRC
CLNACC RCV000417354.1,