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rs763471771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs763471771(A;A)
Make rs763471771(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position40413088
GeneIVD
is asnp
is mentioned by
dbSNPrs763471771
dbSNP (classic)rs763471771
ClinGenrs763471771
ebirs763471771
HLIrs763471771
Exacrs763471771
Gnomadrs763471771
Varsomers763471771
LitVarrs763471771
Maprs763471771
PheGenIrs763471771
Biobankrs763471771
1000 genomesrs763471771
hgdprs763471771
ensemblrs763471771
geneviewrs763471771
scholarrs763471771
googlers763471771
pharmgkbrs763471771
gwascentralrs763471771
openSNPrs763471771
23andMers763471771
SNPshotrs763471771
SNPdbers763471771
MSV3drs763471771
GWAS Ctlgrs763471771
Max Magnitude0
ClinVar
Risk rs763471771(A;A)
Alt rs763471771(A;A)
Reference Rs763471771(G;G)
Significance Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40705287G>A
CLNSRC
CLNACC RCV000179846.1,