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rs121908004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908004(G;T)
Make rs121908004(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120737049
GeneACADS
is asnp
is mentioned by
dbSNPrs121908004
ebirs121908004
HLIrs121908004
Exacrs121908004
Varsomers121908004
Maprs121908004
PheGenIrs121908004
hapmaprs121908004
1000 genomesrs121908004
hgdprs121908004
ensemblrs121908004
gopubmedrs121908004
geneviewrs121908004
scholarrs121908004
googlers121908004
pharmgkbrs121908004
gwascentralrs121908004
openSNPrs121908004
23andMers121908004
23andMe allrs121908004
SNP Nexus

SNPshotrs121908004
SNPdbers121908004
MSV3drs121908004
GWAS Ctlgrs121908004
Max Magnitude0
OMIM606885
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908004(T;T)
Alt rs121908004(T;T)
Reference rs121908004(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.121174852G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004031.2,