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rs398123680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123680(C;C)
Make rs398123680(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40416356
GeneIVD
is asnp
is mentioned by
dbSNPrs398123680
ebirs398123680
HLIrs398123680
Exacrs398123680
Varsomers398123680
Maprs398123680
PheGenIrs398123680
hapmaprs398123680
1000 genomesrs398123680
hgdprs398123680
ensemblrs398123680
gopubmedrs398123680
geneviewrs398123680
scholarrs398123680
googlers398123680
pharmgkbrs398123680
gwascentralrs398123680
openSNPrs398123680
23andMers398123680
23andMe allrs398123680
SNP Nexus

SNPshotrs398123680
SNPdbers398123680
MSV3drs398123680
GWAS Ctlgrs398123680
Max Magnitude0
ClinVar
Risk rs398123680(C;C)
Alt rs398123680(C;C)
Reference rs398123680(T;T)
Significance Probable-Pathogenic
Disease not provided Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN not provided Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40708555T>C
CLNSRC ClinVar Emory University
CLNACC RCV000079995.3, RCV000174064.1,