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rs121908005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908005(A;A)
Make rs121908005(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position120737043
GeneACADS
is asnp
is mentioned by
dbSNPrs121908005
ebirs121908005
HLIrs121908005
Exacrs121908005
Varsomers121908005
Maprs121908005
PheGenIrs121908005
hapmaprs121908005
1000 genomesrs121908005
hgdprs121908005
ensemblrs121908005
gopubmedrs121908005
geneviewrs121908005
scholarrs121908005
googlers121908005
pharmgkbrs121908005
gwascentralrs121908005
openSNPrs121908005
23andMers121908005
23andMe allrs121908005
SNP Nexus

SNPshotrs121908005
SNPdbers121908005
MSV3drs121908005
GWAS Ctlgrs121908005
Max Magnitude0
OMIM606885
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908005(A;A)
Alt rs121908005(A;A)
Reference rs121908005(G;G)
Significance Pathogenic
Disease Deficiency of butyryl-CoA dehydrogenase
Variation info
Gene ACADS
CLNDBN Deficiency of butyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000012.11:g.121174846G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004036.2,