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rs121434279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434279(A;G)
Make rs121434279(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position75740088
GeneACADM
is asnp
is mentioned by
dbSNPrs121434279
dbSNP (classic)rs121434279
ClinGenrs121434279
ebirs121434279
HLIrs121434279
Exacrs121434279
Gnomadrs121434279
Varsomers121434279
LitVarrs121434279
Maprs121434279
PheGenIrs121434279
Biobankrs121434279
1000 genomesrs121434279
hgdprs121434279
ensemblrs121434279
geneviewrs121434279
scholarrs121434279
googlers121434279
pharmgkbrs121434279
gwascentralrs121434279
openSNPrs121434279
23andMers121434279
SNPshotrs121434279
SNPdbers121434279
MSV3drs121434279
GWAS Ctlgrs121434279
Max Magnitude0
OMIM607008
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121434279(G;G)
Alt rs121434279(G;G)
Reference Rs121434279(A;A)
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.76205773A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003778.2,