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

rs121918383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918383(C;T)
Make rs121918383(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position21013379
GeneAPOB
is asnp
is mentioned by
dbSNPrs121918383
ebirs121918383
HLIrs121918383
Exacrs121918383
Varsomers121918383
Maprs121918383
PheGenIrs121918383
hapmaprs121918383
1000 genomesrs121918383
hgdprs121918383
ensemblrs121918383
gopubmedrs121918383
geneviewrs121918383
scholarrs121918383
googlers121918383
pharmgkbrs121918383
gwascentralrs121918383
openSNPrs121918383
23andMers121918383
23andMe allrs121918383
SNP Nexus

SNPshotrs121918383
SNPdbers121918383
MSV3drs121918383
GWAS Ctlgrs121918383
Max Magnitude0
OMIM107730
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918383(G,T;G,T)
Alt rs121918383(G,T;G,T)
Reference rs121918383(C;C)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21236251G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019472.26,