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rs398123683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123683(C;C)
Make rs398123683(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40410799
GeneIVD
is asnp
is mentioned by
dbSNPrs398123683
ebirs398123683
HLIrs398123683
Exacrs398123683
Varsomers398123683
Maprs398123683
PheGenIrs398123683
hapmaprs398123683
1000 genomesrs398123683
hgdprs398123683
ensemblrs398123683
gopubmedrs398123683
geneviewrs398123683
scholarrs398123683
googlers398123683
pharmgkbrs398123683
gwascentralrs398123683
openSNPrs398123683
23andMers398123683
23andMe allrs398123683
SNP Nexus

SNPshotrs398123683
SNPdbers398123683
MSV3drs398123683
GWAS Ctlgrs398123683
Max Magnitude0
ClinVar
Risk rs398123683(C;C)
Alt rs398123683(C;C)
Reference rs398123683(T;T)
Significance 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.40702998T>C
CLNSRC HGMD
CLNACC RCV000079999.3, RCV000178177.1,