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rs121918388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918388(C;T)
Make rs121918388(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position21010033
GeneAPOB
is asnp
is mentioned by
dbSNPrs121918388
ebirs121918388
HLIrs121918388
Exacrs121918388
Varsomers121918388
Maprs121918388
PheGenIrs121918388
hapmaprs121918388
1000 genomesrs121918388
hgdprs121918388
ensemblrs121918388
gopubmedrs121918388
geneviewrs121918388
scholarrs121918388
googlers121918388
pharmgkbrs121918388
gwascentralrs121918388
openSNPrs121918388
23andMers121918388
23andMe allrs121918388
SNP Nexus

SNPshotrs121918388
SNPdbers121918388
MSV3drs121918388
GWAS Ctlgrs121918388
Max Magnitude0
OMIM107730
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918388(T;T)
Alt rs121918388(T;T)
Reference rs121918388(C;C)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Hypobetalipoproteinemia, normotriglyceridemic
Reversed 1
HGVS NC_000002.11:g.21232905G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019482.26,