rs121434282

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	5	Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(C;G)	3	Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

75749552

Gene

ACADM

is a	snp
is	mentioned by
dbSNP	rs121434282
dbSNP (classic)	rs121434282
ClinGen	rs121434282
ebi	rs121434282
HLI	rs121434282
Exac	rs121434282
Gnomad	rs121434282
Varsome	rs121434282
LitVar	rs121434282
Map	rs121434282
PheGenI	rs121434282
Biobank	rs121434282
1000 genomes	rs121434282
hgdp	rs121434282
ensembl	rs121434282
geneview	rs121434282
scholar	rs121434282
google	rs121434282
pharmgkb	rs121434282
gwascentral	rs121434282
openSNP	rs121434282
23andMe	rs121434282
SNPshot	rs121434282
SNPdbe	rs121434282
MSV3d	rs121434282
GWAS Ctlg	rs121434282

Max Magnitude

5

aka c.842G>C (p.Arg281Thr)

23andMe name: i5003116

OMIM	607008
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs121434282(C;C)
Alt	Rs121434282(C;C)
Reference	Rs121434282(G;G)
Significance	Pathogenic
Disease	Medium-chain acyl-coenzyme A dehydrogenase deficiency
Variation	info
Gene	ACADM
CLNDBN	Medium-chain acyl-coenzyme A dehydrogenase deficiency
Reversed	0
HGVS	NC_000001.10:g.76215237G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003779.2,