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rs121434282

From SNPedia

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Geno Mag Summary
(C;C) 5 Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(C;G) 3 Carrier of Medium-Chain Acyl-CoA Dehydrogenase Deficiency
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position75749552
GeneACADM
is asnp
is mentioned by
dbSNPrs121434282
ebirs121434282
HLIrs121434282
Exacrs121434282
Varsomers121434282
Maprs121434282
PheGenIrs121434282
hapmaprs121434282
1000 genomesrs121434282
hgdprs121434282
ensemblrs121434282
gopubmedrs121434282
geneviewrs121434282
scholarrs121434282
googlers121434282
pharmgkbrs121434282
gwascentralrs121434282
openSNPrs121434282
23andMers121434282
23andMe allrs121434282
SNP Nexus

SNPshotrs121434282
SNPdbers121434282
MSV3drs121434282
GWAS Ctlgrs121434282
Max Magnitude5
OMIM607008
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121434282(C;C)
Alt rs121434282(C;C)
Reference rs121434282(G;G)
Significance Pathogenic
Disease Medium-chain acyl-coenzyme A dehydrogenase deficiency
Variation info
Gene ACADM
CLNDBN Medium-chain acyl-coenzyme A dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.76215237G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003779.2,