rs28941773

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	2

Make rs28941773(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120739168

Gene

ACADS

is a	snp
is	mentioned by
dbSNP	rs28941773
dbSNP (classic)	rs28941773
ClinGen	rs28941773
ebi	rs28941773
HLI	rs28941773
Exac	rs28941773
Gnomad	rs28941773
Varsome	rs28941773
LitVar	rs28941773
Map	rs28941773
PheGenI	rs28941773
Biobank	rs28941773
1000 genomes	rs28941773
hgdp	rs28941773
ensembl	rs28941773
geneview	rs28941773
scholar	rs28941773
google	rs28941773
pharmgkb	rs28941773
gwascentral	rs28941773
openSNP	rs28941773
23andMe	rs28941773
SNPshot	rs28941773
SNPdbe	rs28941773
MSV3d	rs28941773
GWAS Ctlg	rs28941773

Max Magnitude

2

OMIM	606885
Desc	SCAD DEFICIENCY
Variant	0012
Related	also

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 UniProtKB (protein)
CLNACC	RCV000004040.2, RCV000185693.3,