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rs1057519690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 5 Familial Hypercholesterolemia
Chromosome19
Position11129605
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519690
dbSNP (old)rs1057519690
ClinGenrs1057519690
ebirs1057519690
HLIrs1057519690
Exacrs1057519690
Gnomadrs1057519690
Varsomers1057519690
LitVarrs1057519690
Maprs1057519690
PheGenIrs1057519690
Biobankrs1057519690
1000 genomesrs1057519690
hgdprs1057519690
ensemblrs1057519690
gopubmedrs1057519690
geneviewrs1057519690
scholarrs1057519690
googlers1057519690
pharmgkbrs1057519690
gwascentralrs1057519690
openSNPrs1057519690
23andMers1057519690
23andMe allrs1057519690
SNPshotrs1057519690
SNPdbers1057519690
MSV3drs1057519690
GWAS Ctlgrs1057519690
Max Magnitude5
ClinVar
Risk rs1057519690(T;T)
Alt rs1057519690(T;T)
Reference Rs1057519690(-;-)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11240281dupT
CLNSRC
CLNACC RCV000417230.1,