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rs1057516685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516685(-;-)
Make rs1057516685(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120737957
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516685
dbSNP (old)rs1057516685
ClinGenrs1057516685
ebirs1057516685
HLIrs1057516685
Exacrs1057516685
Gnomadrs1057516685
Varsomers1057516685
Maprs1057516685
PheGenIrs1057516685
Biobankrs1057516685
1000 genomesrs1057516685
hgdprs1057516685
ensemblrs1057516685
gopubmedrs1057516685
geneviewrs1057516685
scholarrs1057516685
googlers1057516685
pharmgkbrs1057516685
gwascentralrs1057516685
openSNPrs1057516685
23andMers1057516685
23andMe allrs1057516685
SNPshotrs1057516685
SNPdbers1057516685
MSV3drs1057516685
GWAS Ctlgrs1057516685
Max Magnitude0
ClinVar
Risk rs1057516685(-;-)
Alt rs1057516685(-;-)
Reference Rs1057516685(TT;TT)
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.121175760_121175761delTT
CLNSRC
CLNACC RCV000410200.1,