rs137852649

Orientation

plus

Stabilized

plus

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

Make rs137852649(C;T)

Make rs137852649(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

123043127

Gene

ACADSB

is a	snp
is	mentioned by
dbSNP	rs137852649
dbSNP (classic)	rs137852649
ClinGen	rs137852649
ebi	rs137852649
HLI	rs137852649
Exac	rs137852649
Gnomad	rs137852649
Varsome	rs137852649
LitVar	rs137852649
Map	rs137852649
PheGenI	rs137852649
Biobank	rs137852649
1000 genomes	rs137852649
hgdp	rs137852649
ensembl	rs137852649
geneview	rs137852649
scholar	rs137852649
google	rs137852649
pharmgkb	rs137852649
gwascentral	rs137852649
openSNP	rs137852649
23andMe	rs137852649
SNPshot	rs137852649
SNPdbe	rs137852649
MSV3d	rs137852649
GWAS Ctlg	rs137852649

Max Magnitude

0

OMIM	600301
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852649(T;T)
Alt	rs137852649(T;T)
Reference	Rs137852649(C;C)
Significance	Pathogenic
Disease	Deficiency of 2-methylbutyryl-CoA dehydrogenase
Variation	info
Gene	ACADSB
CLNDBN	Deficiency of 2-methylbutyryl-CoA dehydrogenase
Reversed	0
HGVS	NC_000010.10:g.124802643C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009778.2,