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rs1057516463

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516463(-;-)
Make rs1057516463(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position75761221
GeneACADM
is asnp
is mentioned by
dbSNPrs1057516463
dbSNP (old)rs1057516463
ClinGenrs1057516463
ebirs1057516463
HLIrs1057516463
Exacrs1057516463
Gnomadrs1057516463
Varsomers1057516463
Maprs1057516463
PheGenIrs1057516463
Biobankrs1057516463
1000 genomesrs1057516463
hgdprs1057516463
ensemblrs1057516463
gopubmedrs1057516463
geneviewrs1057516463
scholarrs1057516463
googlers1057516463
pharmgkbrs1057516463
gwascentralrs1057516463
openSNPrs1057516463
23andMers1057516463
23andMe allrs1057516463
SNPshotrs1057516463
SNPdbers1057516463
MSV3drs1057516463
GWAS Ctlgrs1057516463
Max Magnitude0
ClinVar
Risk rs1057516463(-;-)
Alt rs1057516463(-;-)
Reference Rs1057516463(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.76226906delC
CLNSRC
CLNACC RCV000411189.1,