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rs1057519647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Familial Hypercholesterolemia
Chromosome19
Position11089381
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519647
dbSNP (old)rs1057519647
ClinGenrs1057519647
ebirs1057519647
HLIrs1057519647
Exacrs1057519647
Gnomadrs1057519647
Varsomers1057519647
Maprs1057519647
PheGenIrs1057519647
Biobankrs1057519647
1000 genomesrs1057519647
hgdprs1057519647
ensemblrs1057519647
gopubmedrs1057519647
geneviewrs1057519647
scholarrs1057519647
googlers1057519647
pharmgkbrs1057519647
gwascentralrs1057519647
openSNPrs1057519647
23andMers1057519647
23andMe allrs1057519647
SNPshotrs1057519647
SNPdbers1057519647
MSV3drs1057519647
GWAS Ctlgrs1057519647
Max Magnitude5
ClinVar
Risk rs1057519647(G;G)
Alt rs1057519647(G;G)
Reference Rs1057519647(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200057A>G
CLNSRC
CLNACC RCV000417242.1,