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rs28940889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940889(C;T)
Make rs28940889(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40415454
GeneIVD
is asnp
is mentioned by
dbSNPrs28940889
ebirs28940889
HLIrs28940889
Exacrs28940889
Varsomers28940889
Maprs28940889
PheGenIrs28940889
hapmaprs28940889
1000 genomesrs28940889
hgdprs28940889
ensemblrs28940889
gopubmedrs28940889
geneviewrs28940889
scholarrs28940889
googlers28940889
pharmgkbrs28940889
gwascentralrs28940889
openSNPrs28940889
23andMers28940889
23andMe allrs28940889
SNP Nexus

SNPshotrs28940889
SNPdbers28940889
MSV3drs28940889
GWAS Ctlgrs28940889
GMAF0.0009183
Max Magnitude0
OMIM607036
DescISOVALERIC ACIDEMIA
Variant0007
Relatedalso


ClinVar
Risk rs28940889(T;T)
Alt rs28940889(T;T)
Reference rs28940889(C;C)
Significance Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency not provided
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000015.9:g.40707653C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003749.2, RCV000080003.4,



GET Evidence
IVD-A311V
aa_change Ala311Val
aa_change_short A311V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0078125
summary