Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs1057517379(-;-)
Make rs1057517379(-;CG)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40405929
GeneIVD
is asnp
is mentioned by
dbSNPrs1057517379
dbSNP (old)rs1057517379
ClinGenrs1057517379
ebirs1057517379
HLIrs1057517379
Exacrs1057517379
Gnomadrs1057517379
Varsomers1057517379
Maprs1057517379
PheGenIrs1057517379
Biobankrs1057517379
1000 genomesrs1057517379
hgdprs1057517379
ensemblrs1057517379
gopubmedrs1057517379
geneviewrs1057517379
scholarrs1057517379
googlers1057517379
pharmgkbrs1057517379
gwascentralrs1057517379
openSNPrs1057517379
23andMers1057517379
23andMe allrs1057517379
SNPshotrs1057517379
SNPdbers1057517379
MSV3drs1057517379
GWAS Ctlgrs1057517379
Max Magnitude0
ClinVar
Risk rs1057517379(-;-)
Alt rs1057517379(-;-)
Reference Rs1057517379(CG;CG)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40698130_40698131delCG
CLNSRC
CLNACC RCV000409035.1,