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rs1057516231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516231(A;G)
Make rs1057516231(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120737835
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516231
dbSNP (old)rs1057516231
ClinGenrs1057516231
ebirs1057516231
HLIrs1057516231
Exacrs1057516231
Gnomadrs1057516231
Varsomers1057516231
Maprs1057516231
PheGenIrs1057516231
Biobankrs1057516231
1000 genomesrs1057516231
hgdprs1057516231
ensemblrs1057516231
gopubmedrs1057516231
geneviewrs1057516231
scholarrs1057516231
googlers1057516231
pharmgkbrs1057516231
gwascentralrs1057516231
openSNPrs1057516231
23andMers1057516231
23andMe allrs1057516231
SNPshotrs1057516231
SNPdbers1057516231
MSV3drs1057516231
GWAS Ctlgrs1057516231
Max Magnitude0
ClinVar
Risk rs1057516231(G;G)
Alt rs1057516231(G;G)
Reference Rs1057516231(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.121175638A>G
CLNSRC
CLNACC RCV000410685.1,