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rs398123074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123074(C;C)
Make rs398123074(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position75732869
GeneACADM
is asnp
is mentioned by
dbSNPrs398123074
dbSNP (classic)rs398123074
ClinGenrs398123074
ebirs398123074
HLIrs398123074
Exacrs398123074
Gnomadrs398123074
Varsomers398123074
LitVarrs398123074
Maprs398123074
PheGenIrs398123074
Biobankrs398123074
1000 genomesrs398123074
hgdprs398123074
ensemblrs398123074
geneviewrs398123074
scholarrs398123074
googlers398123074
pharmgkbrs398123074
gwascentralrs398123074
openSNPrs398123074
23andMers398123074
SNPshotrs398123074
SNPdbers398123074
MSV3drs398123074
GWAS Ctlgrs398123074
Max Magnitude0
ClinVar
Risk rs398123074(C;C)
Alt rs398123074(C;C)
Reference Rs398123074(T;T)
Significance Pathogenic
Disease not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency
Variation info
Gene ACADM
CLNDBN not provided Medium-chain acyl-coenzyme A dehydrogenase deficiency
Reversed 0
HGVS NC_000001.10:g.76198554T>C
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000077885.4, RCV000178019.1,