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rs1057519666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 5 Familial Hypercholesterolemia
Chromosome19
Position11107515
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519666
dbSNP (old)rs1057519666
ClinGenrs1057519666
ebirs1057519666
HLIrs1057519666
Exacrs1057519666
Gnomadrs1057519666
Varsomers1057519666
LitVarrs1057519666
Maprs1057519666
PheGenIrs1057519666
Biobankrs1057519666
1000 genomesrs1057519666
hgdprs1057519666
ensemblrs1057519666
gopubmedrs1057519666
geneviewrs1057519666
scholarrs1057519666
googlers1057519666
pharmgkbrs1057519666
gwascentralrs1057519666
openSNPrs1057519666
23andMers1057519666
23andMe allrs1057519666
SNPshotrs1057519666
SNPdbers1057519666
MSV3drs1057519666
GWAS Ctlgrs1057519666
Max Magnitude5
ClinVar
Risk rs1057519666(G;G)
Alt rs1057519666(G;G)
Reference Rs1057519666(-;-)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11218191dupG
CLNSRC
CLNACC RCV000417274.1,