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rs121908418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908418(C;C)
Make rs121908418(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position134258589
GeneACAD8
is asnp
is mentioned by
dbSNPrs121908418
ebirs121908418
HLIrs121908418
Exacrs121908418
Varsomers121908418
Maprs121908418
PheGenIrs121908418
hapmaprs121908418
1000 genomesrs121908418
hgdprs121908418
ensemblrs121908418
gopubmedrs121908418
geneviewrs121908418
scholarrs121908418
googlers121908418
pharmgkbrs121908418
gwascentralrs121908418
openSNPrs121908418
23andMers121908418
23andMe allrs121908418
SNP Nexus

SNPshotrs121908418
SNPdbers121908418
MSV3drs121908418
GWAS Ctlgrs121908418
Max Magnitude0
OMIM604773
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908418(C;C)
Alt rs121908418(C;C)
Reference rs121908418(T;T)
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.134128483T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005686.2,