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rs1057519662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CAAGGACAAATCTGACG) 5 Familial Hypercholesterolemia
Chromosome19
Position11105588
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519662
dbSNP (old)rs1057519662
ClinGenrs1057519662
ebirs1057519662
HLIrs1057519662
Exacrs1057519662
Gnomadrs1057519662
Varsomers1057519662
LitVarrs1057519662
Maprs1057519662
PheGenIrs1057519662
Biobankrs1057519662
1000 genomesrs1057519662
hgdprs1057519662
ensemblrs1057519662
gopubmedrs1057519662
geneviewrs1057519662
scholarrs1057519662
googlers1057519662
pharmgkbrs1057519662
gwascentralrs1057519662
openSNPrs1057519662
23andMers1057519662
23andMe allrs1057519662
SNPshotrs1057519662
SNPdbers1057519662
MSV3drs1057519662
GWAS Ctlgrs1057519662
Max Magnitude5
ClinVar
Risk rs1057519662(GCAAGGACAAATCTGAC;GCAAGGACAAATCTGAC)
Alt rs1057519662(GCAAGGACAAATCTGAC;GCAAGGACAAATCTGAC)
Reference Rs1057519662(-;-)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216248_11216264dup17
CLNSRC
CLNACC RCV000417272.1,