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rs1057519687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GACAATGT) 5 Familial Hypercholesterolemia
(GACAATGT;GACAATGT) 0 common/normal
(GTGACAAT;GTGACAAT) 0 common in clinvar
Chromosome19
Position11123328
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519687
dbSNP (old)rs1057519687
ClinGenrs1057519687
ebirs1057519687
HLIrs1057519687
Exacrs1057519687
Gnomadrs1057519687
Varsomers1057519687
Maprs1057519687
PheGenIrs1057519687
Biobankrs1057519687
1000 genomesrs1057519687
hgdprs1057519687
ensemblrs1057519687
gopubmedrs1057519687
geneviewrs1057519687
scholarrs1057519687
googlers1057519687
pharmgkbrs1057519687
gwascentralrs1057519687
openSNPrs1057519687
23andMers1057519687
23andMe allrs1057519687
SNPshotrs1057519687
SNPdbers1057519687
MSV3drs1057519687
GWAS Ctlgrs1057519687
Max Magnitude5
ClinVar
Risk rs1057519687(-;-)
Alt rs1057519687(-;-)
Reference Rs1057519687(GTGACAAT;GTGACAAT)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11234004_11234011delGACAATGT
CLNSRC
CLNACC RCV000417229.1,