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rs121434285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434285(G;T)
Make rs121434285(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40411600
GeneIVD
is asnp
is mentioned by
dbSNPrs121434285
ebirs121434285
HLIrs121434285
Exacrs121434285
Varsomers121434285
Maprs121434285
PheGenIrs121434285
hapmaprs121434285
1000 genomesrs121434285
hgdprs121434285
ensemblrs121434285
gopubmedrs121434285
geneviewrs121434285
scholarrs121434285
googlers121434285
pharmgkbrs121434285
gwascentralrs121434285
openSNPrs121434285
23andMers121434285
23andMe allrs121434285
SNP Nexus

SNPshotrs121434285
SNPdbers121434285
MSV3drs121434285
GWAS Ctlgrs121434285
Max Magnitude0
OMIM607036
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434285(T;T)
Alt rs121434285(T;T)
Reference rs121434285(G;G)
Significance Pathogenic
Disease Isovaleric acidemia
Variation info
Gene IVD
CLNDBN Isovaleric acidemia, type I
Reversed 0
HGVS NC_000015.9:g.40703799G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003744.2,