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rs878853973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 3 Carrier of a hypobetalipoproteinemia mutation
(G;G) 0 common in clinvar


Make rs878853973(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position21007345
GeneAPOB
is asnp
is mentioned by
dbSNPrs878853973
dbSNP (classic)rs878853973
ClinGenrs878853973
ebirs878853973
HLIrs878853973
Exacrs878853973
Gnomadrs878853973
Varsomers878853973
LitVarrs878853973
Maprs878853973
PheGenIrs878853973
Biobankrs878853973
1000 genomesrs878853973
hgdprs878853973
ensemblrs878853973
geneviewrs878853973
scholarrs878853973
googlers878853973
pharmgkbrs878853973
gwascentralrs878853973
openSNPrs878853973
23andMers878853973
SNPshotrs878853973
SNPdbers878853973
MSV3drs878853973
GWAS Ctlgrs878853973
Max Magnitude3
ClinVar
Risk rs878853973(-;-)
Alt rs878853973(-;-)
Reference Rs878853973(G;G)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Hypobetalipoproteinemia, familial, 1
Reversed 1
HGVS NC_000002.11:g.21230217delC
CLNSRC
CLNACC RCV000227662.2,