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rs34695403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34695403(C;T)
Make rs34695403(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40407639
GeneIVD
is asnp
is mentioned by
dbSNPrs34695403
dbSNP (classic)rs34695403
ClinGenrs34695403
ebirs34695403
HLIrs34695403
Exacrs34695403
Gnomadrs34695403
Varsomers34695403
LitVarrs34695403
Maprs34695403
PheGenIrs34695403
Biobankrs34695403
1000 genomesrs34695403
hgdprs34695403
ensemblrs34695403
geneviewrs34695403
scholarrs34695403
googlers34695403
pharmgkbrs34695403
gwascentralrs34695403
openSNPrs34695403
23andMers34695403
SNPshotrs34695403
SNPdbers34695403
MSV3drs34695403
GWAS Ctlgrs34695403
Max Magnitude0
OMIM607036
Desc
Variant0006
Relatedalso


ClinVar
Risk rs34695403(G;G) rs34695403(T;T)
Alt rs34695403(G;G) rs34695403(T;T)
Reference Rs34695403(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.40699840C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003748.2,