rs28940872

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs28940872(C;T)

Make rs28940872(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120739356

Gene

ACADS

is a	snp
is	mentioned by
dbSNP	rs28940872
dbSNP (classic)	rs28940872
ClinGen	rs28940872
ebi	rs28940872
HLI	rs28940872
Exac	rs28940872
Gnomad	rs28940872
Varsome	rs28940872
LitVar	rs28940872
Map	rs28940872
PheGenI	rs28940872
Biobank	rs28940872
1000 genomes	rs28940872
hgdp	rs28940872
ensembl	rs28940872
geneview	rs28940872
scholar	rs28940872
google	rs28940872
pharmgkb	rs28940872
gwascentral	rs28940872
openSNP	rs28940872
23andMe	rs28940872
SNPshot	rs28940872
SNPdbe	rs28940872
MSV3d	rs28940872
GWAS Ctlg	rs28940872

Max Magnitude

0

OMIM	606885
Desc	SCAD DEFICIENCY
Variant	0005
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004033.2, RCV000185700.2,