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rs796051983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796051983(C;T)
Make rs796051983(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position40415412
GeneIVD
is asnp
is mentioned by
dbSNPrs796051983
dbSNP (classic)rs796051983
ClinGenrs796051983
ebirs796051983
HLIrs796051983
Exacrs796051983
Gnomadrs796051983
Varsomers796051983
LitVarrs796051983
Maprs796051983
PheGenIrs796051983
Biobankrs796051983
1000 genomesrs796051983
hgdprs796051983
ensemblrs796051983
geneviewrs796051983
scholarrs796051983
googlers796051983
pharmgkbrs796051983
gwascentralrs796051983
openSNPrs796051983
23andMers796051983
SNPshotrs796051983
SNPdbers796051983
MSV3drs796051983
GWAS Ctlgrs796051983
Max Magnitude0
ClinVar
Risk rs796051983(T;T)
Alt rs796051983(T;T)
Reference Rs796051983(C;C)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40707611C>T
CLNSRC
CLNACC RCV000412245.1,