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rs1057516566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516566(A;A)
Make rs1057516566(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120736985
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516566
dbSNP (old)rs1057516566
ClinGenrs1057516566
ebirs1057516566
HLIrs1057516566
Exacrs1057516566
Gnomadrs1057516566
Varsomers1057516566
Maprs1057516566
PheGenIrs1057516566
Biobankrs1057516566
1000 genomesrs1057516566
hgdprs1057516566
ensemblrs1057516566
gopubmedrs1057516566
geneviewrs1057516566
scholarrs1057516566
googlers1057516566
pharmgkbrs1057516566
gwascentralrs1057516566
openSNPrs1057516566
23andMers1057516566
23andMe allrs1057516566
SNPshotrs1057516566
SNPdbers1057516566
MSV3drs1057516566
GWAS Ctlgrs1057516566
Max Magnitude0
ClinVar
Risk rs1057516566(A;A)
Alt rs1057516566(A;A)
Reference Rs1057516566(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.121174788G>A
CLNSRC
CLNACC RCV000409068.1,