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rs1057517043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517043(A;A)
Make rs1057517043(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40411554
GeneIVD
is asnp
is mentioned by
dbSNPrs1057517043
dbSNP (old)rs1057517043
ClinGenrs1057517043
ebirs1057517043
HLIrs1057517043
Exacrs1057517043
Gnomadrs1057517043
Varsomers1057517043
Maprs1057517043
PheGenIrs1057517043
Biobankrs1057517043
1000 genomesrs1057517043
hgdprs1057517043
ensemblrs1057517043
gopubmedrs1057517043
geneviewrs1057517043
scholarrs1057517043
googlers1057517043
pharmgkbrs1057517043
gwascentralrs1057517043
openSNPrs1057517043
23andMers1057517043
23andMe allrs1057517043
SNPshotrs1057517043
SNPdbers1057517043
MSV3drs1057517043
GWAS Ctlgrs1057517043
Max Magnitude0
ClinVar
Risk rs1057517043(A;A)
Alt rs1057517043(A;A)
Reference Rs1057517043(G;G)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40703753G>A
CLNSRC
CLNACC RCV000410323.1,