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rs879254954

From SNPedia

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


Make rs879254954(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position11116108
GeneLDLR
is asnp
is mentioned by
dbSNPrs879254954
dbSNP (classic)rs879254954
ClinGenrs879254954
ebirs879254954
HLIrs879254954
Exacrs879254954
Gnomadrs879254954
Varsomers879254954
LitVarrs879254954
Maprs879254954
PheGenIrs879254954
Biobankrs879254954
1000 genomesrs879254954
hgdprs879254954
ensemblrs879254954
geneviewrs879254954
scholarrs879254954
googlers879254954
pharmgkbrs879254954
gwascentralrs879254954
openSNPrs879254954
23andMers879254954
23andMe allrs879254954
SNPshotrs879254954
SNPdbers879254954
MSV3drs879254954
GWAS Ctlgrs879254954
Max Magnitude5
ClinVar
Risk rs879254954(A;A)
Alt rs879254954(A;A)
Reference Rs879254954(C;C)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11226784C>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237154.1,