Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908422(A;A)
Make rs121908422(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position134261338
GeneACAD8
is asnp
is mentioned by
dbSNPrs121908422
dbSNP (classic)rs121908422
ClinGenrs121908422
ebirs121908422
HLIrs121908422
Exacrs121908422
Gnomadrs121908422
Varsomers121908422
LitVarrs121908422
Maprs121908422
PheGenIrs121908422
Biobankrs121908422
1000 genomesrs121908422
hgdprs121908422
ensemblrs121908422
geneviewrs121908422
scholarrs121908422
googlers121908422
pharmgkbrs121908422
gwascentralrs121908422
openSNPrs121908422
23andMers121908422
SNPshotrs121908422
SNPdbers121908422
MSV3drs121908422
GWAS Ctlgrs121908422
Max Magnitude0
OMIM604773
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908422(A;A)
Alt rs121908422(A;A)
Reference Rs121908422(G;G)
Significance Pathogenic
Disease Deficiency of isobutyryl-CoA dehydrogenase not specified
Variation info
Gene ACAD8
CLNDBN Deficiency of isobutyryl-CoA dehydrogenase not specified
Reversed 0
HGVS NC_000011.9:g.134131232G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005690.2, RCV000180314.1,