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rs28941773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 2
Make rs28941773(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120739168
GeneACADS
is asnp
is mentioned by
dbSNPrs28941773
ebirs28941773
HLIrs28941773
Exacrs28941773
Varsomers28941773
Maprs28941773
PheGenIrs28941773
hapmaprs28941773
1000 genomesrs28941773
hgdprs28941773
ensemblrs28941773
gopubmedrs28941773
geneviewrs28941773
scholarrs28941773
googlers28941773
pharmgkbrs28941773
gwascentralrs28941773
openSNPrs28941773
23andMers28941773
23andMe allrs28941773
SNP Nexus

SNPshotrs28941773
SNPdbers28941773
MSV3drs28941773
GWAS Ctlgrs28941773
Max Magnitude2
OMIM606885
DescSCAD DEFICIENCY
Variant0012
Relatedalso
Neighborrs28940875
Distance179


ClinVar
Risk rs28941773(T;T)
Alt rs28941773(T;T)
Reference rs28941773(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.121176971C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004040.2, RCV000185693.2,