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rs797045253

From SNPedia

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


Make rs797045253(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position21002397
GeneAPOB
is asnp
is mentioned by
dbSNPrs797045253
dbSNP (classic)rs797045253
ClinGenrs797045253
ebirs797045253
HLIrs797045253
Exacrs797045253
Gnomadrs797045253
Varsomers797045253
LitVarrs797045253
Maprs797045253
PheGenIrs797045253
Biobankrs797045253
1000 genomesrs797045253
hgdprs797045253
ensemblrs797045253
geneviewrs797045253
scholarrs797045253
googlers797045253
pharmgkbrs797045253
gwascentralrs797045253
openSNPrs797045253
23andMers797045253
SNPshotrs797045253
SNPdbers797045253
MSV3drs797045253
GWAS Ctlgrs797045253
Max Magnitude3
ClinVar
Risk rs797045253(-;-)
Alt rs797045253(-;-)
Reference Rs797045253(C;C)
Significance Probable-Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21225269delG
CLNSRC
CLNACC RCV000193633.1,