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rs1057516967

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516967(-;-)
Make rs1057516967(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120725917
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516967
dbSNP (old)rs1057516967
ClinGenrs1057516967
ebirs1057516967
HLIrs1057516967
Exacrs1057516967
Gnomadrs1057516967
Varsomers1057516967
Maprs1057516967
PheGenIrs1057516967
Biobankrs1057516967
1000 genomesrs1057516967
hgdprs1057516967
ensemblrs1057516967
gopubmedrs1057516967
geneviewrs1057516967
scholarrs1057516967
googlers1057516967
pharmgkbrs1057516967
gwascentralrs1057516967
openSNPrs1057516967
23andMers1057516967
23andMe allrs1057516967
SNPshotrs1057516967
SNPdbers1057516967
MSV3drs1057516967
GWAS Ctlgrs1057516967
Max Magnitude0
ClinVar
Risk rs1057516967(-;-)
Alt rs1057516967(-;-)
Reference Rs1057516967(G;G)
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.121163720delG
CLNSRC
CLNACC RCV000410482.1,