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rs121434284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434284(C;C)
Make rs121434284(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40405952
GeneIVD
is asnp
is mentioned by
dbSNPrs121434284
ebirs121434284
HLIrs121434284
Exacrs121434284
Varsomers121434284
Maprs121434284
PheGenIrs121434284
hapmaprs121434284
1000 genomesrs121434284
hgdprs121434284
ensemblrs121434284
gopubmedrs121434284
geneviewrs121434284
scholarrs121434284
googlers121434284
pharmgkbrs121434284
gwascentralrs121434284
openSNPrs121434284
23andMers121434284
23andMe allrs121434284
SNP Nexus

SNPshotrs121434284
SNPdbers121434284
MSV3drs121434284
GWAS Ctlgrs121434284
Max Magnitude0
OMIM607036
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434284(C;C)
Alt rs121434284(C;C)
Reference rs121434284(T;T)
Significance Pathogenic
Disease Isovaleric acidemia
Variation info
Gene IVD
CLNDBN Isovaleric acidemia, type I
Reversed 0
HGVS NC_000015.9:g.40698153T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003743.2,