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rs864309733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 8.8 Methylmalonic aciduria (predicted)
(C;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49457923
GeneMUT
is asnp
is mentioned by
dbSNPrs864309733
dbSNP (classic)rs864309733
ClinGenrs864309733
ebirs864309733
HLIrs864309733
Exacrs864309733
Gnomadrs864309733
Varsomers864309733
LitVarrs864309733
Maprs864309733
PheGenIrs864309733
Biobankrs864309733
1000 genomesrs864309733
hgdprs864309733
ensemblrs864309733
geneviewrs864309733
scholarrs864309733
googlers864309733
pharmgkbrs864309733
gwascentralrs864309733
openSNPrs864309733
23andMers864309733
SNPshotrs864309733
SNPdbers864309733
MSV3drs864309733
GWAS Ctlgrs864309733
Max Magnitude8.8
ClinVar
Risk Rs864309733(C;C)
Alt Rs864309733(C;C)
Reference Rs864309733(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49425636A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000203368.1,