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rs28940875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940875(C;T)
Make rs28940875(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position120739347
GeneACADS
is asnp
is mentioned by
dbSNPrs28940875
dbSNP (classic)rs28940875
ClinGenrs28940875
ebirs28940875
HLIrs28940875
Exacrs28940875
Gnomadrs28940875
Varsomers28940875
LitVarrs28940875
Maprs28940875
PheGenIrs28940875
Biobankrs28940875
1000 genomesrs28940875
hgdprs28940875
ensemblrs28940875
geneviewrs28940875
scholarrs28940875
googlers28940875
pharmgkbrs28940875
gwascentralrs28940875
openSNPrs28940875
23andMers28940875
SNPshotrs28940875
SNPdbers28940875
MSV3drs28940875
GWAS Ctlgrs28940875
Max Magnitude0
OMIM606885
DescSCAD DEFICIENCY
Variant0013
Relatedalso



ClinVar
Risk rs28940875(G;G) rs28940875(T;T)
Alt rs28940875(G;G) rs28940875(T;T)
Reference Rs28940875(C;C)
Significance Other
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.121177150C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004041.4, RCV000185699.1,