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rs398123684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123684(-;-)
Make rs398123684(-;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40411301
GeneIVD
is asnp
is mentioned by
dbSNPrs398123684
dbSNP (classic)rs398123684
ClinGenrs398123684
ebirs398123684
HLIrs398123684
Exacrs398123684
Gnomadrs398123684
Varsomers398123684
LitVarrs398123684
Maprs398123684
PheGenIrs398123684
Biobankrs398123684
1000 genomesrs398123684
hgdprs398123684
ensemblrs398123684
geneviewrs398123684
scholarrs398123684
googlers398123684
pharmgkbrs398123684
gwascentralrs398123684
openSNPrs398123684
23andMers398123684
SNPshotrs398123684
SNPdbers398123684
MSV3drs398123684
GWAS Ctlgrs398123684
Max Magnitude0
ClinVar
Risk rs398123684(-;-)
Alt rs398123684(-;-)
Reference Rs398123684(G;G)
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.40703500delG
CLNSRC ClinVar
CLNACC RCV000080000.3, RCV000178862.1,