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rs1057516801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516801(G;T)
Make rs1057516801(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75732742
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516801
dbSNP (classic)rs1057516801
ClinGenrs1057516801
ebirs1057516801
HLIrs1057516801
Exacrs1057516801
Gnomadrs1057516801
Varsomers1057516801
LitVarrs1057516801
Maprs1057516801
PheGenIrs1057516801
Biobankrs1057516801
1000 genomesrs1057516801
hgdprs1057516801
ensemblrs1057516801
geneviewrs1057516801
scholarrs1057516801
googlers1057516801
pharmgkbrs1057516801
gwascentralrs1057516801
openSNPrs1057516801
23andMers1057516801
SNPshotrs1057516801
SNPdbers1057516801
MSV3drs1057516801
GWAS Ctlgrs1057516801
Max Magnitude0
ClinVar
Risk rs1057516801(T;T)
Alt rs1057516801(T;T)
Reference Rs1057516801(G;G)
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.76198427G>T
CLNSRC
CLNACC RCV000411766.1,