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rs1057519684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
Chromosome19
Position11120507
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519684
dbSNP (old)rs1057519684
ClinGenrs1057519684
ebirs1057519684
HLIrs1057519684
Exacrs1057519684
Gnomadrs1057519684
Varsomers1057519684
LitVarrs1057519684
Maprs1057519684
PheGenIrs1057519684
Biobankrs1057519684
1000 genomesrs1057519684
hgdprs1057519684
ensemblrs1057519684
gopubmedrs1057519684
geneviewrs1057519684
scholarrs1057519684
googlers1057519684
pharmgkbrs1057519684
gwascentralrs1057519684
openSNPrs1057519684
23andMers1057519684
23andMe allrs1057519684
SNPshotrs1057519684
SNPdbers1057519684
MSV3drs1057519684
GWAS Ctlgrs1057519684
Max Magnitude5
ClinVar
Risk rs1057519684(G;G)
Alt rs1057519684(G;G)
Reference Rs1057519684(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231183A>G
CLNSRC
CLNACC RCV000417355.1,