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rs121434281

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
Position75749444
GeneACADM
is asnp
is mentioned by
dbSNPrs121434281
ebirs121434281
HLIrs121434281
Exacrs121434281
Varsomers121434281
Maprs121434281
PheGenIrs121434281
hapmaprs121434281
1000 genomesrs121434281
hgdprs121434281
ensemblrs121434281
gopubmedrs121434281
geneviewrs121434281
scholarrs121434281
googlers121434281
pharmgkbrs121434281
gwascentralrs121434281
openSNPrs121434281
23andMers121434281
23andMe allrs121434281
SNP Nexus

SNPshotrs121434281
SNPdbers121434281
MSV3drs121434281
GWAS Ctlgrs121434281
Max Magnitude5
OMIM607008
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434281(T;T)
Alt rs121434281(T;T)
Reference rs121434281(C;C)
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.76215129C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003781.2, RCV000077894.3,