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rs387906569

From SNPedia

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


Make rs387906569(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position21004451
GeneAPOB
is asnp
is mentioned by
dbSNPrs387906569
dbSNP (classic)rs387906569
ClinGenrs387906569
ebirs387906569
HLIrs387906569
Exacrs387906569
Gnomadrs387906569
Varsomers387906569
LitVarrs387906569
Maprs387906569
PheGenIrs387906569
Biobankrs387906569
1000 genomesrs387906569
hgdprs387906569
ensemblrs387906569
geneviewrs387906569
scholarrs387906569
googlers387906569
pharmgkbrs387906569
gwascentralrs387906569
openSNPrs387906569
23andMers387906569
SNPshotrs387906569
SNPdbers387906569
MSV3drs387906569
GWAS Ctlgrs387906569
Max Magnitude3
ClinVar
Risk rs387906569(-;-)
Alt rs387906569(-;-)
Reference Rs387906569(G;G)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21227323delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019477.28,