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rs765815516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs765815516(C;T)
Make rs765815516(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40407723
GeneIVD
is asnp
is mentioned by
dbSNPrs765815516
dbSNP (classic)rs765815516
ClinGenrs765815516
ebirs765815516
HLIrs765815516
Exacrs765815516
Gnomadrs765815516
Varsomers765815516
LitVarrs765815516
Maprs765815516
PheGenIrs765815516
Biobankrs765815516
1000 genomesrs765815516
hgdprs765815516
ensemblrs765815516
geneviewrs765815516
scholarrs765815516
googlers765815516
pharmgkbrs765815516
gwascentralrs765815516
openSNPrs765815516
23andMers765815516
SNPshotrs765815516
SNPdbers765815516
MSV3drs765815516
GWAS Ctlgrs765815516
Max Magnitude0
ClinVar
Risk rs765815516(T;T)
Alt rs765815516(T;T)
Reference Rs765815516(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.40699924C>T
CLNSRC
CLNACC RCV000410639.1, RCV000413831.1,