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rs1057519685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 5 Familial Hypercholesterolemia
Chromosome19
Position11120516
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519685
dbSNP (old)rs1057519685
ClinGenrs1057519685
ebirs1057519685
HLIrs1057519685
Exacrs1057519685
Gnomadrs1057519685
Varsomers1057519685
LitVarrs1057519685
Maprs1057519685
PheGenIrs1057519685
Biobankrs1057519685
1000 genomesrs1057519685
hgdprs1057519685
ensemblrs1057519685
gopubmedrs1057519685
geneviewrs1057519685
scholarrs1057519685
googlers1057519685
pharmgkbrs1057519685
gwascentralrs1057519685
openSNPrs1057519685
23andMers1057519685
23andMe allrs1057519685
SNPshotrs1057519685
SNPdbers1057519685
MSV3drs1057519685
GWAS Ctlgrs1057519685
Max Magnitude5
ClinVar
Risk rs1057519685(C;C)
Alt rs1057519685(C;C)
Reference Rs1057519685(-;-)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231192dupC
CLNSRC
CLNACC RCV000417262.1,