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rs28940872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940872(C;T)
Make rs28940872(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120739356
GeneACADS
is asnp
is mentioned by
dbSNPrs28940872
ebirs28940872
HLIrs28940872
Exacrs28940872
Varsomers28940872
Maprs28940872
PheGenIrs28940872
hapmaprs28940872
1000 genomesrs28940872
hgdprs28940872
ensemblrs28940872
gopubmedrs28940872
geneviewrs28940872
scholarrs28940872
googlers28940872
pharmgkbrs28940872
gwascentralrs28940872
openSNPrs28940872
23andMers28940872
23andMe allrs28940872
SNP Nexus

SNPshotrs28940872
SNPdbers28940872
MSV3drs28940872
GWAS Ctlgrs28940872
Max Magnitude0
OMIM606885
DescSCAD DEFICIENCY
Variant0005
Relatedalso
Neighborrs28940875
Distance9


ClinVar
Risk rs28940872(T;T)
Alt rs28940872(T;T)
Reference rs28940872(C;C)
Significance Pathogenic
Disease Deficiency of butyryl-CoA dehydrogenase not provided
Variation info
Gene ACADS
CLNDBN Deficiency of butyryl-CoA dehydrogenase not provided
Reversed 0
HGVS NC_000012.11:g.121177159C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004033.2, RCV000185700.2,