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rs121434283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434283(C;T)
Make rs121434283(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position75733603
GeneACADM
is asnp
is mentioned by
dbSNPrs121434283
dbSNP (classic)rs121434283
ClinGenrs121434283
ebirs121434283
HLIrs121434283
Exacrs121434283
Gnomadrs121434283
Varsomers121434283
LitVarrs121434283
Maprs121434283
PheGenIrs121434283
Biobankrs121434283
1000 genomesrs121434283
hgdprs121434283
ensemblrs121434283
geneviewrs121434283
scholarrs121434283
googlers121434283
pharmgkbrs121434283
gwascentralrs121434283
openSNPrs121434283
23andMers121434283
SNPshotrs121434283
SNPdbers121434283
MSV3drs121434283
GWAS Ctlgrs121434283
Max Magnitude0
OMIM607008
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121434283(T;T)
Alt rs121434283(T;T)
Reference Rs121434283(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.76199288C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003782.2, RCV000185674.2,