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rs1057519663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar


Make rs1057519663(A;A)
Chromosome19
Position11106653
GeneLDLR
is asnp
is mentioned by
dbSNPrs1057519663
dbSNP (classic)rs1057519663
ClinGenrs1057519663
ebirs1057519663
HLIrs1057519663
Exacrs1057519663
Gnomadrs1057519663
Varsomers1057519663
LitVarrs1057519663
Maprs1057519663
PheGenIrs1057519663
Biobankrs1057519663
1000 genomesrs1057519663
hgdprs1057519663
ensemblrs1057519663
geneviewrs1057519663
scholarrs1057519663
googlers1057519663
pharmgkbrs1057519663
gwascentralrs1057519663
openSNPrs1057519663
23andMers1057519663
SNPshotrs1057519663
SNPdbers1057519663
MSV3drs1057519663
GWAS Ctlgrs1057519663
Max Magnitude5

aka c.783C>A (p.Cys261Ter)

ClinVar
Risk rs1057519663(A;A)
Alt rs1057519663(A;A)
Reference Rs1057519663(C;C)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11217329C>A
CLNSRC
CLNACC RCV000417302.1,