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rs121434280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(C;T) 3 Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position75732724
GeneACADM
is asnp
is mentioned by
dbSNPrs121434280
ebirs121434280
HLIrs121434280
Exacrs121434280
Varsomers121434280
Maprs121434280
PheGenIrs121434280
hapmaprs121434280
1000 genomesrs121434280
hgdprs121434280
ensemblrs121434280
gopubmedrs121434280
geneviewrs121434280
scholarrs121434280
googlers121434280
pharmgkbrs121434280
gwascentralrs121434280
openSNPrs121434280
23andMers121434280
23andMe allrs121434280
SNP Nexus

SNPshotrs121434280
SNPdbers121434280
MSV3drs121434280
GWAS Ctlgrs121434280
Max Magnitude5
OMIM607008
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121434280(C;C)
Alt rs121434280(C;C)
Reference rs121434280(T;T)
Significance Pathogenic
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.76198409T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003780.2, RCV000185668.2,