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rs121918390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918390(C;T)
Make rs121918390(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position21009304
GeneAPOB
is asnp
is mentioned by
dbSNPrs121918390
ebirs121918390
HLIrs121918390
Exacrs121918390
Varsomers121918390
Maprs121918390
PheGenIrs121918390
hapmaprs121918390
1000 genomesrs121918390
hgdprs121918390
ensemblrs121918390
gopubmedrs121918390
geneviewrs121918390
scholarrs121918390
googlers121918390
pharmgkbrs121918390
gwascentralrs121918390
openSNPrs121918390
23andMers121918390
23andMe allrs121918390
SNP Nexus

SNPshotrs121918390
SNPdbers121918390
MSV3drs121918390
GWAS Ctlgrs121918390
Max Magnitude0
OMIM107730
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918390(T;T)
Alt rs121918390(T;T)
Reference rs121918390(C;C)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21232176G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019484.27,