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rs121918385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918385(-;-)
Make rs121918385(-;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position21003241
GeneAPOB
is asnp
is mentioned by
dbSNPrs121918385
ebirs121918385
HLIrs121918385
Exacrs121918385
Varsomers121918385
Maprs121918385
PheGenIrs121918385
hapmaprs121918385
1000 genomesrs121918385
hgdprs121918385
ensemblrs121918385
gopubmedrs121918385
geneviewrs121918385
scholarrs121918385
googlers121918385
pharmgkbrs121918385
gwascentralrs121918385
openSNPrs121918385
23andMers121918385
23andMe allrs121918385
SNP Nexus

SNPshotrs121918385
SNPdbers121918385
MSV3drs121918385
GWAS Ctlgrs121918385
Max Magnitude0
OMIM107730
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918385(;)
Alt rs121918385(;)
Reference rs121918385(G;G)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21226113delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019474.26,