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rs121918385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 3 Carrier of a hypobetalipoproteinemia mutation
(G;G) 0 common in clinvar


Make rs121918385(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position21003241
GeneAPOB
is asnp
is mentioned by
dbSNPrs121918385
dbSNP (classic)rs121918385
ClinGenrs121918385
ebirs121918385
HLIrs121918385
Exacrs121918385
Gnomadrs121918385
Varsomers121918385
LitVarrs121918385
Maprs121918385
PheGenIrs121918385
Biobankrs121918385
1000 genomesrs121918385
hgdprs121918385
ensemblrs121918385
geneviewrs121918385
scholarrs121918385
googlers121918385
pharmgkbrs121918385
gwascentralrs121918385
openSNPrs121918385
23andMers121918385
SNPshotrs121918385
SNPdbers121918385
MSV3drs121918385
GWAS Ctlgrs121918385
Max Magnitude3
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,