rs28940874

Orientation

plus

Stabilized

plus

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

Make rs28940874(C;T)

Make rs28940874(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120737939

Gene

ACADS

is a	snp
is	mentioned by
dbSNP	rs28940874
dbSNP (classic)	rs28940874
ClinGen	rs28940874
ebi	rs28940874
HLI	rs28940874
Exac	rs28940874
Gnomad	rs28940874
Varsome	rs28940874
LitVar	rs28940874
Map	rs28940874
PheGenI	rs28940874
Biobank	rs28940874
1000 genomes	rs28940874
hgdp	rs28940874
ensembl	rs28940874
geneview	rs28940874
scholar	rs28940874
google	rs28940874
pharmgkb	rs28940874
gwascentral	rs28940874
openSNP	rs28940874
23andMe	rs28940874
SNPshot	rs28940874
SNPdbe	rs28940874
MSV3d	rs28940874
GWAS Ctlg	rs28940874

Max Magnitude

0

OMIM	606885
Desc	SCAD DEFICIENCY
Variant	0010
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004038.2,