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rs121908419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908419(A;A)
Make rs121908419(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position134262556
GeneACAD8
is asnp
is mentioned by
dbSNPrs121908419
ebirs121908419
HLIrs121908419
Exacrs121908419
Varsomers121908419
Maprs121908419
PheGenIrs121908419
hapmaprs121908419
1000 genomesrs121908419
hgdprs121908419
ensemblrs121908419
gopubmedrs121908419
geneviewrs121908419
scholarrs121908419
googlers121908419
pharmgkbrs121908419
gwascentralrs121908419
openSNPrs121908419
23andMers121908419
23andMe allrs121908419
SNP Nexus

SNPshotrs121908419
SNPdbers121908419
MSV3drs121908419
GWAS Ctlgrs121908419
Max Magnitude0
OMIM604773
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908419(A;A)
Alt rs121908419(A;A)
Reference rs121908419(G;G)
Significance Pathogenic
Disease Deficiency of isobutyryl-CoA dehydrogenase not provided
Variation info
Gene ACAD8
CLNDBN Deficiency of isobutyryl-CoA dehydrogenase not provided
Reversed 0
HGVS NC_000011.9:g.134132450G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005687.2, RCV000081615.4,