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rs1057516564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516564(C;T)
Make rs1057516564(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75761125
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516564
dbSNP (classic)rs1057516564
ClinGenrs1057516564
ebirs1057516564
HLIrs1057516564
Exacrs1057516564
Gnomadrs1057516564
Varsomers1057516564
LitVarrs1057516564
Maprs1057516564
PheGenIrs1057516564
Biobankrs1057516564
1000 genomesrs1057516564
hgdprs1057516564
ensemblrs1057516564
geneviewrs1057516564
scholarrs1057516564
googlers1057516564
pharmgkbrs1057516564
gwascentralrs1057516564
openSNPrs1057516564
23andMers1057516564
SNPshotrs1057516564
SNPdbers1057516564
MSV3drs1057516564
GWAS Ctlgrs1057516564
Max Magnitude0
ClinVar
Risk rs1057516564(T;T)
Alt rs1057516564(T;T)
Reference Rs1057516564(C;C)
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.76226810C>T
CLNSRC
CLNACC RCV000412345.1,