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rs1057516842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516842(-;-)
Make rs1057516842(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75734840
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516842
dbSNP (classic)rs1057516842
ClinGenrs1057516842
ebirs1057516842
HLIrs1057516842
Exacrs1057516842
Gnomadrs1057516842
Varsomers1057516842
LitVarrs1057516842
Maprs1057516842
PheGenIrs1057516842
Biobankrs1057516842
1000 genomesrs1057516842
hgdprs1057516842
ensemblrs1057516842
geneviewrs1057516842
scholarrs1057516842
googlers1057516842
pharmgkbrs1057516842
gwascentralrs1057516842
openSNPrs1057516842
23andMers1057516842
SNPshotrs1057516842
SNPdbers1057516842
MSV3drs1057516842
GWAS Ctlgrs1057516842
Max Magnitude0
ClinVar
Risk rs1057516842(-;-)
Alt rs1057516842(-;-)
Reference Rs1057516842(T;T)
Significance Probable-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.76200525delT
CLNSRC
CLNACC RCV000412440.1,