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rs121434275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434275(C;C)
Make rs121434275(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position75761300
GeneACADM
is asnp
is mentioned by
dbSNPrs121434275
ebirs121434275
HLIrs121434275
Exacrs121434275
Varsomers121434275
Maprs121434275
PheGenIrs121434275
hapmaprs121434275
1000 genomesrs121434275
hgdprs121434275
ensemblrs121434275
gopubmedrs121434275
geneviewrs121434275
scholarrs121434275
googlers121434275
pharmgkbrs121434275
gwascentralrs121434275
openSNPrs121434275
23andMers121434275
23andMe allrs121434275
SNP Nexus

SNPshotrs121434275
SNPdbers121434275
MSV3drs121434275
GWAS Ctlgrs121434275
Max Magnitude0
OMIM607008
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434275(C;C)
Alt rs121434275(C;C)
Reference rs121434275(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.76226985T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003772.2,