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rs1057517155

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517155(-;-)
Make rs1057517155(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120739141
GeneACADS
is asnp
is mentioned by
dbSNPrs1057517155
dbSNP (old)rs1057517155
ClinGenrs1057517155
ebirs1057517155
HLIrs1057517155
Exacrs1057517155
Gnomadrs1057517155
Varsomers1057517155
LitVarrs1057517155
Maprs1057517155
PheGenIrs1057517155
Biobankrs1057517155
1000 genomesrs1057517155
hgdprs1057517155
ensemblrs1057517155
gopubmedrs1057517155
geneviewrs1057517155
scholarrs1057517155
googlers1057517155
pharmgkbrs1057517155
gwascentralrs1057517155
openSNPrs1057517155
23andMers1057517155
23andMe allrs1057517155
SNPshotrs1057517155
SNPdbers1057517155
MSV3drs1057517155
GWAS Ctlgrs1057517155
Max Magnitude0
ClinVar
Risk rs1057517155(-;-)
Alt rs1057517155(-;-)
Reference Rs1057517155(A;A)
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.121176944delA
CLNSRC
CLNACC RCV000411215.1,