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rs368705240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368705240(C;T)
Make rs368705240(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position40416332
GeneIVD
is asnp
is mentioned by
dbSNPrs368705240
dbSNP (classic)rs368705240
ClinGenrs368705240
ebirs368705240
HLIrs368705240
Exacrs368705240
Gnomadrs368705240
Varsomers368705240
LitVarrs368705240
Maprs368705240
PheGenIrs368705240
Biobankrs368705240
1000 genomesrs368705240
hgdprs368705240
ensemblrs368705240
geneviewrs368705240
scholarrs368705240
googlers368705240
pharmgkbrs368705240
gwascentralrs368705240
openSNPrs368705240
23andMers368705240
SNPshotrs368705240
SNPdbers368705240
MSV3drs368705240
GWAS Ctlgrs368705240
Max Magnitude0
ClinVar
Risk rs368705240(T;T)
Alt rs368705240(T;T)
Reference Rs368705240(C;C)
Significance Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40708531C>T
CLNSRC
CLNACC RCV000301785.1,