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rs1057519657

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CGACTGC) 5 Familial Hypercholesterolemia
Chromosome19
Position11105572
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519657
dbSNP (old)rs1057519657
ClinGenrs1057519657
ebirs1057519657
HLIrs1057519657
Exacrs1057519657
Gnomadrs1057519657
Varsomers1057519657
Maprs1057519657
PheGenIrs1057519657
Biobankrs1057519657
1000 genomesrs1057519657
hgdprs1057519657
ensemblrs1057519657
gopubmedrs1057519657
geneviewrs1057519657
scholarrs1057519657
googlers1057519657
pharmgkbrs1057519657
gwascentralrs1057519657
openSNPrs1057519657
23andMers1057519657
23andMe allrs1057519657
SNPshotrs1057519657
SNPdbers1057519657
MSV3drs1057519657
GWAS Ctlgrs1057519657
Max Magnitude5
ClinVar
Risk rs1057519657(CCGACTG;CCGACTG)
Alt rs1057519657(CCGACTG;CCGACTG)
Reference Rs1057519657(-;-)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216242_11216248dupCGACTGC
CLNSRC
CLNACC RCV000417235.1,