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rs28940874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940874(C;T)
Make rs28940874(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120737939
GeneACADS
is asnp
is mentioned by
dbSNPrs28940874
ebirs28940874
HLIrs28940874
Exacrs28940874
Varsomers28940874
Maprs28940874
PheGenIrs28940874
hapmaprs28940874
1000 genomesrs28940874
hgdprs28940874
ensemblrs28940874
gopubmedrs28940874
geneviewrs28940874
scholarrs28940874
googlers28940874
pharmgkbrs28940874
gwascentralrs28940874
openSNPrs28940874
23andMers28940874
23andMe allrs28940874
SNP Nexus

SNPshotrs28940874
SNPdbers28940874
MSV3drs28940874
GWAS Ctlgrs28940874
Max Magnitude0
OMIM606885
DescSCAD DEFICIENCY
Variant0010
Relatedalso
Neighborrs1800556
Distance64


ClinVar
Risk rs28940874(T;T)
Alt rs28940874(T;T)
Reference rs28940874(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.121175742C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004038.2,