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rs1057516485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516485(A;A)
Make rs1057516485(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75761135
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516485
dbSNP (old)rs1057516485
ClinGenrs1057516485
ebirs1057516485
HLIrs1057516485
Exacrs1057516485
Gnomadrs1057516485
Varsomers1057516485
LitVarrs1057516485
Maprs1057516485
PheGenIrs1057516485
Biobankrs1057516485
1000 genomesrs1057516485
hgdprs1057516485
ensemblrs1057516485
gopubmedrs1057516485
geneviewrs1057516485
scholarrs1057516485
googlers1057516485
pharmgkbrs1057516485
gwascentralrs1057516485
openSNPrs1057516485
23andMers1057516485
23andMe allrs1057516485
SNPshotrs1057516485
SNPdbers1057516485
MSV3drs1057516485
GWAS Ctlgrs1057516485
Max Magnitude0
ClinVar
Risk rs1057516485(A;A)
Alt rs1057516485(A;A)
Reference Rs1057516485(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.76226820C>A
CLNSRC
CLNACC RCV000409156.1,