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rs281865425

From SNPedia

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


Make rs281865425(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position21011602
GeneAPOB
is asnp
is mentioned by
dbSNPrs281865425
dbSNP (classic)rs281865425
ClinGenrs281865425
ebirs281865425
HLIrs281865425
Exacrs281865425
Gnomadrs281865425
Varsomers281865425
LitVarrs281865425
Maprs281865425
PheGenIrs281865425
Biobankrs281865425
1000 genomesrs281865425
hgdprs281865425
ensemblrs281865425
geneviewrs281865425
scholarrs281865425
googlers281865425
pharmgkbrs281865425
gwascentralrs281865425
openSNPrs281865425
23andMers281865425
SNPshotrs281865425
SNPdbers281865425
MSV3drs281865425
GWAS Ctlgrs281865425
Max Magnitude3
ClinVar
Risk rs281865425(-;-)
Alt rs281865425(-;-)
Reference Rs281865425(AACA;AACA)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21234474_21234477delTGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000019470.25,