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rs398123682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs398123682(-;-)
Make rs398123682(-;TG)
ReferenceGRCh38 38.1/141
Chromosome15
Position40410738
GeneIVD
is asnp
is mentioned by
dbSNPrs398123682
ebirs398123682
HLIrs398123682
Exacrs398123682
Varsomers398123682
Maprs398123682
PheGenIrs398123682
hapmaprs398123682
1000 genomesrs398123682
hgdprs398123682
ensemblrs398123682
gopubmedrs398123682
geneviewrs398123682
scholarrs398123682
googlers398123682
pharmgkbrs398123682
gwascentralrs398123682
openSNPrs398123682
23andMers398123682
23andMe allrs398123682
SNP Nexus

SNPshotrs398123682
SNPdbers398123682
MSV3drs398123682
GWAS Ctlgrs398123682
Max Magnitude0
ClinVar
Risk rs398123682(;)
Alt rs398123682(;)
Reference rs398123682(TG;TG)
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.40702937_40702938delTG
CLNSRC ClinVar
CLNACC RCV000079998.3, RCV000178176.1,