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rs1057519654

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar
Chromosome19
Position11105233
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519654
dbSNP (old)rs1057519654
ClinGenrs1057519654
ebirs1057519654
HLIrs1057519654
Exacrs1057519654
Gnomadrs1057519654
Varsomers1057519654
Maprs1057519654
PheGenIrs1057519654
Biobankrs1057519654
1000 genomesrs1057519654
hgdprs1057519654
ensemblrs1057519654
gopubmedrs1057519654
geneviewrs1057519654
scholarrs1057519654
googlers1057519654
pharmgkbrs1057519654
gwascentralrs1057519654
openSNPrs1057519654
23andMers1057519654
23andMe allrs1057519654
SNPshotrs1057519654
SNPdbers1057519654
MSV3drs1057519654
GWAS Ctlgrs1057519654
Max Magnitude5
ClinVar
Risk rs1057519654(A;A)
Alt rs1057519654(A;A)
Reference Rs1057519654(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215909C>A
CLNSRC
CLNACC RCV000417289.1,