rs373715782

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

75745822

Gene	ACADM, DLSTP1

is a	snp
is	mentioned by
dbSNP	rs373715782
dbSNP (classic)	rs373715782
ClinGen	rs373715782
ebi	rs373715782
HLI	rs373715782
Exac	rs373715782
Gnomad	rs373715782
Varsome	rs373715782
LitVar	rs373715782
Map	rs373715782
PheGenI	rs373715782
Biobank	rs373715782
1000 genomes	rs373715782
hgdp	rs373715782
ensembl	rs373715782
geneview	rs373715782
scholar	rs373715782
google	rs373715782
pharmgkb	rs373715782
gwascentral	rs373715782
openSNP	rs373715782
23andMe	rs373715782
SNPshot	rs373715782
SNPdbe	rs373715782
MSV3d	rs373715782
GWAS Ctlg	rs373715782

Max Magnitude

5

aka c.616C>T (p.Arg206Cys or R206C)

ClinVar
Risk	Rs373715782(T;T)
Alt	Rs373715782(T;T)
Reference	Rs373715782(C;C)
Significance	Other
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.76211507C>T
CLNSRC	HGMD
CLNACC	RCV000077892.5, RCV000180087.1,