Have questions? Visit https://www.reddit.com/r/SNPedia

rs878853970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a hypobetalipoproteinemia mutation
Make rs878853970(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position21028484
GeneAPOB
is asnp
is mentioned by
dbSNPrs878853970
dbSNP (classic)rs878853970
ClinGenrs878853970
ebirs878853970
HLIrs878853970
Exacrs878853970
Gnomadrs878853970
Varsomers878853970
LitVarrs878853970
Maprs878853970
PheGenIrs878853970
Biobankrs878853970
1000 genomesrs878853970
hgdprs878853970
ensemblrs878853970
geneviewrs878853970
scholarrs878853970
googlers878853970
pharmgkbrs878853970
gwascentralrs878853970
openSNPrs878853970
23andMers878853970
SNPshotrs878853970
SNPdbers878853970
MSV3drs878853970
GWAS Ctlgrs878853970
Max Magnitude3
ClinVar
Risk rs878853970(T;T)
Alt rs878853970(T;T)
Reference Rs878853970(C;C)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Hypobetalipoproteinemia, familial, 1
Reversed 1
HGVS NC_000002.11:g.21251356G>A
CLNSRC
CLNACC RCV000234398.1,