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rs1057516769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516769(-;T)
Make rs1057516769(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40413047
GeneIVD
is asnp
is mentioned by
dbSNPrs1057516769
dbSNP (old)rs1057516769
ClinGenrs1057516769
ebirs1057516769
HLIrs1057516769
Exacrs1057516769
Gnomadrs1057516769
Varsomers1057516769
Maprs1057516769
PheGenIrs1057516769
Biobankrs1057516769
1000 genomesrs1057516769
hgdprs1057516769
ensemblrs1057516769
gopubmedrs1057516769
geneviewrs1057516769
scholarrs1057516769
googlers1057516769
pharmgkbrs1057516769
gwascentralrs1057516769
openSNPrs1057516769
23andMers1057516769
23andMe allrs1057516769
SNPshotrs1057516769
SNPdbers1057516769
MSV3drs1057516769
GWAS Ctlgrs1057516769
Max Magnitude0
ClinVar
Risk rs1057516769(T;T)
Alt rs1057516769(T;T)
Reference Rs1057516769(-;-)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40705246dupT
CLNSRC
CLNACC RCV000408999.1,