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rs1057516848

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516848(A;A)
Make rs1057516848(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120737891
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516848
dbSNP (old)rs1057516848
ClinGenrs1057516848
ebirs1057516848
HLIrs1057516848
Exacrs1057516848
Gnomadrs1057516848
Varsomers1057516848
Maprs1057516848
PheGenIrs1057516848
Biobankrs1057516848
1000 genomesrs1057516848
hgdprs1057516848
ensemblrs1057516848
gopubmedrs1057516848
geneviewrs1057516848
scholarrs1057516848
googlers1057516848
pharmgkbrs1057516848
gwascentralrs1057516848
openSNPrs1057516848
23andMers1057516848
23andMe allrs1057516848
SNPshotrs1057516848
SNPdbers1057516848
MSV3drs1057516848
GWAS Ctlgrs1057516848
Max Magnitude0
ClinVar
Risk rs1057516848(A;A)
Alt rs1057516848(A;A)
Reference Rs1057516848(C;C)
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.121175694C>A
CLNSRC
CLNACC RCV000409256.1,