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rs1057517056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517056(A;G)
Make rs1057517056(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40416076
GeneIVD
is asnp
is mentioned by
dbSNPrs1057517056
dbSNP (old)rs1057517056
ClinGenrs1057517056
ebirs1057517056
HLIrs1057517056
Exacrs1057517056
Gnomadrs1057517056
Varsomers1057517056
LitVarrs1057517056
Maprs1057517056
PheGenIrs1057517056
Biobankrs1057517056
1000 genomesrs1057517056
hgdprs1057517056
ensemblrs1057517056
gopubmedrs1057517056
geneviewrs1057517056
scholarrs1057517056
googlers1057517056
pharmgkbrs1057517056
gwascentralrs1057517056
openSNPrs1057517056
23andMers1057517056
23andMe allrs1057517056
SNPshotrs1057517056
SNPdbers1057517056
MSV3drs1057517056
GWAS Ctlgrs1057517056
Max Magnitude0
ClinVar
Risk rs1057517056(G;G)
Alt rs1057517056(G;G)
Reference Rs1057517056(A;A)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40708275A>G
CLNSRC
CLNACC RCV000409066.1,