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rs1057516385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516385(-;-)
Make rs1057516385(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120737090
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516385
dbSNP (old)rs1057516385
ClinGenrs1057516385
ebirs1057516385
HLIrs1057516385
Exacrs1057516385
Gnomadrs1057516385
Varsomers1057516385
Maprs1057516385
PheGenIrs1057516385
Biobankrs1057516385
1000 genomesrs1057516385
hgdprs1057516385
ensemblrs1057516385
gopubmedrs1057516385
geneviewrs1057516385
scholarrs1057516385
googlers1057516385
pharmgkbrs1057516385
gwascentralrs1057516385
openSNPrs1057516385
23andMers1057516385
23andMe allrs1057516385
SNPshotrs1057516385
SNPdbers1057516385
MSV3drs1057516385
GWAS Ctlgrs1057516385
Max Magnitude0
ClinVar
Risk rs1057516385(-;-)
Alt rs1057516385(-;-)
Reference Rs1057516385(C;C)
Significance Probable-Pathogenic
Disease Deficiency of butyryl-CoA dehydrogenase
Variation info
Gene ACADS
CLNDBN Deficiency of butyryl-CoA dehydrogenase
Reversed 0
HGVS NC_000012.11:g.121174893delC
CLNSRC
CLNACC RCV000411417.1,