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rs1057516480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516480(-;-)
Make rs1057516480(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75732860
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516480
dbSNP (classic)rs1057516480
ClinGenrs1057516480
ebirs1057516480
HLIrs1057516480
Exacrs1057516480
Gnomadrs1057516480
Varsomers1057516480
LitVarrs1057516480
Maprs1057516480
PheGenIrs1057516480
Biobankrs1057516480
1000 genomesrs1057516480
hgdprs1057516480
ensemblrs1057516480
geneviewrs1057516480
scholarrs1057516480
googlers1057516480
pharmgkbrs1057516480
gwascentralrs1057516480
openSNPrs1057516480
23andMers1057516480
SNPshotrs1057516480
SNPdbers1057516480
MSV3drs1057516480
GWAS Ctlgrs1057516480
Max Magnitude0
ClinVar
Risk rs1057516480(-;-)
Alt rs1057516480(-;-)
Reference Rs1057516480(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.76198545delT
CLNSRC
CLNACC RCV000409619.1,