rs121434281

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

75749444

Gene

ACADM

is a	snp
is	mentioned by
dbSNP	rs121434281
dbSNP (classic)	rs121434281
ClinGen	rs121434281
ebi	rs121434281
HLI	rs121434281
Exac	rs121434281
Gnomad	rs121434281
Varsome	rs121434281
LitVar	rs121434281
Map	rs121434281
PheGenI	rs121434281
Biobank	rs121434281
1000 genomes	rs121434281
hgdp	rs121434281
ensembl	rs121434281
geneview	rs121434281
scholar	rs121434281
google	rs121434281
pharmgkb	rs121434281
gwascentral	rs121434281
openSNP	rs121434281
23andMe	rs121434281
SNPshot	rs121434281
SNPdbe	rs121434281
MSV3d	rs121434281
GWAS Ctlg	rs121434281

Max Magnitude

5

aka c.734C>T (p.Ser245Leu or S245L)

OMIM	607008
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs121434281(T;T)
Alt	Rs121434281(T;T)
Reference	Rs121434281(C;C)
Significance	Other
Disease	Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided
Variation	info
Gene	ACADM
CLNDBN	Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided
Reversed	0
HGVS	NC_000001.10:g.76215129C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000003781.2, RCV000077894.4,