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rs1057519649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 5 Familial Hypercholesterolemia
Chromosome19
Position11089425
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519649
dbSNP (old)rs1057519649
ClinGenrs1057519649
ebirs1057519649
HLIrs1057519649
Exacrs1057519649
Gnomadrs1057519649
Varsomers1057519649
LitVarrs1057519649
Maprs1057519649
PheGenIrs1057519649
Biobankrs1057519649
1000 genomesrs1057519649
hgdprs1057519649
ensemblrs1057519649
gopubmedrs1057519649
geneviewrs1057519649
scholarrs1057519649
googlers1057519649
pharmgkbrs1057519649
gwascentralrs1057519649
openSNPrs1057519649
23andMers1057519649
23andMe allrs1057519649
SNPshotrs1057519649
SNPdbers1057519649
MSV3drs1057519649
GWAS Ctlgrs1057519649
Max Magnitude5
ClinVar
Risk rs1057519649(A;A)
Alt rs1057519649(A;A)
Reference Rs1057519649(-;-)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200101dupA
CLNSRC
CLNACC RCV000417241.1,