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rs878854028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 5 Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs878854028(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105285
GeneLDLR
is asnp
is mentioned by
dbSNPrs878854028
dbSNP (classic)rs878854028
ClinGenrs878854028
ebirs878854028
HLIrs878854028
Exacrs878854028
Gnomadrs878854028
Varsomers878854028
LitVarrs878854028
Maprs878854028
PheGenIrs878854028
Biobankrs878854028
1000 genomesrs878854028
hgdprs878854028
ensemblrs878854028
geneviewrs878854028
scholarrs878854028
googlers878854028
pharmgkbrs878854028
gwascentralrs878854028
openSNPrs878854028
23andMers878854028
SNPshotrs878854028
SNPdbers878854028
MSV3drs878854028
GWAS Ctlgrs878854028
Max Magnitude5
ClinVar
Risk rs878854028(-;-)
Alt rs878854028(-;-)
Reference Rs878854028(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215961delG
CLNSRC
CLNACC RCV000229645.1,