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rs1057516983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516983(G;T)
Make rs1057516983(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75733629
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516983
dbSNP (old)rs1057516983
ClinGenrs1057516983
ebirs1057516983
HLIrs1057516983
Exacrs1057516983
Gnomadrs1057516983
Varsomers1057516983
LitVarrs1057516983
Maprs1057516983
PheGenIrs1057516983
Biobankrs1057516983
1000 genomesrs1057516983
hgdprs1057516983
ensemblrs1057516983
gopubmedrs1057516983
geneviewrs1057516983
scholarrs1057516983
googlers1057516983
pharmgkbrs1057516983
gwascentralrs1057516983
openSNPrs1057516983
23andMers1057516983
23andMe allrs1057516983
SNPshotrs1057516983
SNPdbers1057516983
MSV3drs1057516983
GWAS Ctlgrs1057516983
Max Magnitude0
ClinVar
Risk rs1057516983(A;A) rs1057516983(T;T)
Alt rs1057516983(A;A) rs1057516983(T;T)
Reference Rs1057516983(G;G)
Significance 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.76199314G>A; NC_000001.10:g.76199314G>T
CLNSRC
CLNACC RCV000410662.1, RCV000411111.1,