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rs121908421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908421(A;A)
Make rs121908421(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position134261300
GeneACAD8
is asnp
is mentioned by
dbSNPrs121908421
ebirs121908421
HLIrs121908421
Exacrs121908421
Varsomers121908421
Maprs121908421
PheGenIrs121908421
hapmaprs121908421
1000 genomesrs121908421
hgdprs121908421
ensemblrs121908421
gopubmedrs121908421
geneviewrs121908421
scholarrs121908421
googlers121908421
pharmgkbrs121908421
gwascentralrs121908421
openSNPrs121908421
23andMers121908421
23andMe allrs121908421
SNP Nexus

SNPshotrs121908421
SNPdbers121908421
MSV3drs121908421
GWAS Ctlgrs121908421
Max Magnitude0
OMIM604773
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908421(A,T;A,T)
Alt rs121908421(A,T;A,T)
Reference rs121908421(C;C)
Significance Pathogenic
Disease Deficiency of isobutyryl-CoA dehydrogenase
Variation info
Gene ACAD8
CLNDBN Deficiency of isobutyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000011.9:g.134131194C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005689.2,