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rs1057516606

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516606(-;C)
Make rs1057516606(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position120738647
GeneACADS
is asnp
is mentioned by
dbSNPrs1057516606
dbSNP (old)rs1057516606
ClinGenrs1057516606
ebirs1057516606
HLIrs1057516606
Exacrs1057516606
Gnomadrs1057516606
Varsomers1057516606
Maprs1057516606
PheGenIrs1057516606
Biobankrs1057516606
1000 genomesrs1057516606
hgdprs1057516606
ensemblrs1057516606
gopubmedrs1057516606
geneviewrs1057516606
scholarrs1057516606
googlers1057516606
pharmgkbrs1057516606
gwascentralrs1057516606
openSNPrs1057516606
23andMers1057516606
23andMe allrs1057516606
SNPshotrs1057516606
SNPdbers1057516606
MSV3drs1057516606
GWAS Ctlgrs1057516606
Max Magnitude0
ClinVar
Risk rs1057516606(C;C)
Alt rs1057516606(C;C)
Reference Rs1057516606(-;-)
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.121176450dupC
CLNSRC
CLNACC RCV000409916.1,