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rs1057516639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516639(A;A)
Make rs1057516639(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120738916
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516639
dbSNP (classic)rs1057516639
ClinGenrs1057516639
ebirs1057516639
HLIrs1057516639
Exacrs1057516639
Gnomadrs1057516639
Varsomers1057516639
LitVarrs1057516639
Maprs1057516639
PheGenIrs1057516639
Biobankrs1057516639
1000 genomesrs1057516639
hgdprs1057516639
ensemblrs1057516639
geneviewrs1057516639
scholarrs1057516639
googlers1057516639
pharmgkbrs1057516639
gwascentralrs1057516639
openSNPrs1057516639
23andMers1057516639
23andMe allrs1057516639
SNPshotrs1057516639
SNPdbers1057516639
MSV3drs1057516639
GWAS Ctlgrs1057516639
Max Magnitude0
ClinVar
Risk rs1057516639(A;A)
Alt rs1057516639(A;A)
Reference Rs1057516639(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.121176719G>A
CLNSRC
CLNACC RCV000411853.1,