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rs771914739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs771914739(A;G)
Make rs771914739(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position40411258
GeneIVD
is asnp
is mentioned by
dbSNPrs771914739
dbSNP (classic)rs771914739
ClinGenrs771914739
ebirs771914739
HLIrs771914739
Exacrs771914739
Gnomadrs771914739
Varsomers771914739
LitVarrs771914739
Maprs771914739
PheGenIrs771914739
Biobankrs771914739
1000 genomesrs771914739
hgdprs771914739
ensemblrs771914739
geneviewrs771914739
scholarrs771914739
googlers771914739
pharmgkbrs771914739
gwascentralrs771914739
openSNPrs771914739
23andMers771914739
SNPshotrs771914739
SNPdbers771914739
MSV3drs771914739
GWAS Ctlgrs771914739
Max Magnitude0
ClinVar
Risk rs771914739(C;C) rs771914739(G;G)
Alt rs771914739(C;C) rs771914739(G;G)
Reference Rs771914739(A;A)
Significance Probable-Pathogenic
Disease Isovaleryl-CoA dehydrogenase deficiency
Variation info
Gene IVD
CLNDBN Isovaleryl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000015.9:g.40703457A>G
CLNSRC
CLNACC RCV000169016.1,