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rs1057517411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517411(-;-)
Make rs1057517411(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75761249
GeneACADM
is asnp
is mentioned by
dbSNPrs1057517411
dbSNP (classic)rs1057517411
ClinGenrs1057517411
ebirs1057517411
HLIrs1057517411
Exacrs1057517411
Gnomadrs1057517411
Varsomers1057517411
LitVarrs1057517411
Maprs1057517411
PheGenIrs1057517411
Biobankrs1057517411
1000 genomesrs1057517411
hgdprs1057517411
ensemblrs1057517411
geneviewrs1057517411
scholarrs1057517411
googlers1057517411
pharmgkbrs1057517411
gwascentralrs1057517411
openSNPrs1057517411
23andMers1057517411
23andMe allrs1057517411
SNPshotrs1057517411
SNPdbers1057517411
MSV3drs1057517411
GWAS Ctlgrs1057517411
Max Magnitude0
ClinVar
Risk rs1057517411(-;-)
Alt rs1057517411(-;-)
Reference Rs1057517411(A;A)
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.76226934delA
CLNSRC
CLNACC RCV000411393.1,