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rs779759347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779759347(C;C)
Make rs779759347(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position75750482
GeneACADM
is asnp
is mentioned by
dbSNPrs779759347
dbSNP (classic)rs779759347
ClinGenrs779759347
ebirs779759347
HLIrs779759347
Exacrs779759347
Gnomadrs779759347
Varsomers779759347
LitVarrs779759347
Maprs779759347
PheGenIrs779759347
Biobankrs779759347
1000 genomesrs779759347
hgdprs779759347
ensemblrs779759347
geneviewrs779759347
scholarrs779759347
googlers779759347
pharmgkbrs779759347
gwascentralrs779759347
openSNPrs779759347
23andMers779759347
SNPshotrs779759347
SNPdbers779759347
MSV3drs779759347
GWAS Ctlgrs779759347
Max Magnitude0
ClinVar
Risk rs779759347(C;C)
Alt rs779759347(C;C)
Reference Rs779759347(G;G)
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.76216167G>C
CLNSRC
CLNACC RCV000211542.1, RCV000421774.1,