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rs121908420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908420(C;T)
Make rs121908420(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position134261786
GeneACAD8
is asnp
is mentioned by
dbSNPrs121908420
ebirs121908420
HLIrs121908420
Exacrs121908420
Varsomers121908420
Maprs121908420
PheGenIrs121908420
hapmaprs121908420
1000 genomesrs121908420
hgdprs121908420
ensemblrs121908420
gopubmedrs121908420
geneviewrs121908420
scholarrs121908420
googlers121908420
pharmgkbrs121908420
gwascentralrs121908420
openSNPrs121908420
23andMers121908420
23andMe allrs121908420
SNP Nexus

SNPshotrs121908420
SNPdbers121908420
MSV3drs121908420
GWAS Ctlgrs121908420
Max Magnitude0
OMIM604773
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908420(T;T)
Alt rs121908420(T;T)
Reference rs121908420(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.134131680C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005688.2,