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rs1057516436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516436(-;G)
Make rs1057516436(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120738330
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516436
dbSNP (old)rs1057516436
ClinGenrs1057516436
ebirs1057516436
HLIrs1057516436
Exacrs1057516436
Gnomadrs1057516436
Varsomers1057516436
LitVarrs1057516436
Maprs1057516436
PheGenIrs1057516436
Biobankrs1057516436
1000 genomesrs1057516436
hgdprs1057516436
ensemblrs1057516436
gopubmedrs1057516436
geneviewrs1057516436
scholarrs1057516436
googlers1057516436
pharmgkbrs1057516436
gwascentralrs1057516436
openSNPrs1057516436
23andMers1057516436
23andMe allrs1057516436
SNPshotrs1057516436
SNPdbers1057516436
MSV3drs1057516436
GWAS Ctlgrs1057516436
Max Magnitude0
ClinVar
Risk rs1057516436(G;G)
Alt rs1057516436(G;G)
Reference Rs1057516436(-;-)
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.121176133dupG
CLNSRC
CLNACC RCV000411237.1,