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rs397514255

From SNPedia

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


Make rs397514255(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position21011405
GeneAPOB
is asnp
is mentioned by
dbSNPrs397514255
dbSNP (classic)rs397514255
ClinGenrs397514255
ebirs397514255
HLIrs397514255
Exacrs397514255
Gnomadrs397514255
Varsomers397514255
LitVarrs397514255
Maprs397514255
PheGenIrs397514255
Biobankrs397514255
1000 genomesrs397514255
hgdprs397514255
ensemblrs397514255
geneviewrs397514255
scholarrs397514255
googlers397514255
pharmgkbrs397514255
gwascentralrs397514255
openSNPrs397514255
23andMers397514255
SNPshotrs397514255
SNPdbers397514255
MSV3drs397514255
GWAS Ctlgrs397514255
Max Magnitude3
ClinVar
Risk rs397514255(-;-)
Alt rs397514255(-;-)
Reference Rs397514255(G;G)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21234277delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019471.27,