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rs121434276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434276(C;C)
Make rs121434276(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position75749440
GeneACADM
is asnp
is mentioned by
dbSNPrs121434276
dbSNP (classic)rs121434276
ClinGenrs121434276
ebirs121434276
HLIrs121434276
Exacrs121434276
Gnomadrs121434276
Varsomers121434276
LitVarrs121434276
Maprs121434276
PheGenIrs121434276
Biobankrs121434276
1000 genomesrs121434276
hgdprs121434276
ensemblrs121434276
geneviewrs121434276
scholarrs121434276
googlers121434276
pharmgkbrs121434276
gwascentralrs121434276
openSNPrs121434276
23andMers121434276
SNPshotrs121434276
SNPdbers121434276
MSV3drs121434276
GWAS Ctlgrs121434276
Max Magnitude0
OMIM607008
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434276(C;C)
Alt rs121434276(C;C)
Reference Rs121434276(T;T)
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.76215125T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003773.2,