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rs373715782

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome1
Position75745822
GeneACADM, DLSTP1
is asnp
is mentioned by
dbSNPrs373715782
dbSNP (classic)rs373715782
ClinGenrs373715782
ebirs373715782
HLIrs373715782
Exacrs373715782
Gnomadrs373715782
Varsomers373715782
LitVarrs373715782
Maprs373715782
PheGenIrs373715782
Biobankrs373715782
1000 genomesrs373715782
hgdprs373715782
ensemblrs373715782
geneviewrs373715782
scholarrs373715782
googlers373715782
pharmgkbrs373715782
gwascentralrs373715782
openSNPrs373715782
23andMers373715782
SNPshotrs373715782
SNPdbers373715782
MSV3drs373715782
GWAS Ctlgrs373715782
Max Magnitude5

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,