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rs1057516428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs1057516428(-;-)
Make rs1057516428(-;CA)
Make rs1057516428(CA;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75732906
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516428
dbSNP (classic)rs1057516428
ClinGenrs1057516428
ebirs1057516428
HLIrs1057516428
Exacrs1057516428
Gnomadrs1057516428
Varsomers1057516428
LitVarrs1057516428
Maprs1057516428
PheGenIrs1057516428
Biobankrs1057516428
1000 genomesrs1057516428
hgdprs1057516428
ensemblrs1057516428
geneviewrs1057516428
scholarrs1057516428
googlers1057516428
pharmgkbrs1057516428
gwascentralrs1057516428
openSNPrs1057516428
23andMers1057516428
SNPshotrs1057516428
SNPdbers1057516428
MSV3drs1057516428
GWAS Ctlgrs1057516428
Max Magnitude0
ClinVar
Risk rs1057516428(-;-)
Alt rs1057516428(-;-)
Reference Rs1057516428(AC;AC)
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.76198591_76198592delCA
CLNSRC
CLNACC RCV000410396.1,