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rs147442301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147442301(C;T)
Make rs147442301(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120727143
GeneACADS
is asnp
is mentioned by
dbSNPrs147442301
ebirs147442301
HLIrs147442301
Exacrs147442301
Varsomers147442301
Maprs147442301
PheGenIrs147442301
hapmaprs147442301
1000 genomesrs147442301
hgdprs147442301
ensemblrs147442301
gopubmedrs147442301
geneviewrs147442301
scholarrs147442301
googlers147442301
pharmgkbrs147442301
gwascentralrs147442301
openSNPrs147442301
23andMers147442301
23andMe allrs147442301
SNP Nexus

SNPshotrs147442301
SNPdbers147442301
MSV3drs147442301
GWAS Ctlgrs147442301
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs147442301(T;T)
Alt rs147442301(T;T)
Reference rs147442301(C;C)
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.121164946C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023585.2,