rs200724875

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

75745823

Gene	ACADM, DLSTP1

is a	snp
is	mentioned by
dbSNP	rs200724875
dbSNP (classic)	rs200724875
ClinGen	rs200724875
ebi	rs200724875
HLI	rs200724875
Exac	rs200724875
Gnomad	rs200724875
Varsome	rs200724875
LitVar	rs200724875
Map	rs200724875
PheGenI	rs200724875
Biobank	rs200724875
1000 genomes	rs200724875
hgdp	rs200724875
ensembl	rs200724875
geneview	rs200724875
scholar	rs200724875
google	rs200724875
pharmgkb	rs200724875
gwascentral	rs200724875
openSNP	rs200724875
23andMe	rs200724875
SNPshot	rs200724875
SNPdbe	rs200724875
MSV3d	rs200724875
GWAS Ctlg	rs200724875

Max Magnitude

5

aka c.617G>A (p.Arg206His)

23andMe name: i5012761

ClinVar
Risk	Rs200724875(A;A)
Alt	Rs200724875(A;A)
Reference	Rs200724875(G;G)
Significance	Pathogenic
Disease	not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency
Variation	info
Gene	DLSTP1 ACADM
CLNDBN	not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency
Reversed	0
HGVS	NC_000001.10:g.76211508G>A
CLNSRC	HGMD
CLNACC	RCV000077893.3, RCV000180088.1,