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rs1057516421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs1057516421(-;-)
Make rs1057516421(-;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120739373
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516421
dbSNP (classic)rs1057516421
ClinGenrs1057516421
ebirs1057516421
HLIrs1057516421
Exacrs1057516421
Gnomadrs1057516421
Varsomers1057516421
LitVarrs1057516421
Maprs1057516421
PheGenIrs1057516421
Biobankrs1057516421
1000 genomesrs1057516421
hgdprs1057516421
ensemblrs1057516421
geneviewrs1057516421
scholarrs1057516421
googlers1057516421
pharmgkbrs1057516421
gwascentralrs1057516421
openSNPrs1057516421
23andMers1057516421
23andMe allrs1057516421
SNPshotrs1057516421
SNPdbers1057516421
MSV3drs1057516421
GWAS Ctlgrs1057516421
Max Magnitude0
ClinVar
Risk rs1057516421(-;-)
Alt rs1057516421(-;-)
Reference Rs1057516421(TG;TG)
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.121177176_121177177delTG
CLNSRC
CLNACC RCV000409490.1,