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rs864309734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 8.8 Methylmalonic aciduria (predicted)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49453733
GeneMUT
is asnp
is mentioned by
dbSNPrs864309734
dbSNP (old)rs864309734
ClinGenrs864309734
ebirs864309734
HLIrs864309734
Exacrs864309734
Varsomers864309734
Maprs864309734
PheGenIrs864309734
Biobankrs864309734
1000 genomesrs864309734
hgdprs864309734
ensemblrs864309734
gopubmedrs864309734
geneviewrs864309734
scholarrs864309734
googlers864309734
pharmgkbrs864309734
gwascentralrs864309734
openSNPrs864309734
23andMers864309734
23andMe allrs864309734
SNP Nexus

SNPshotrs864309734
SNPdbers864309734
MSV3drs864309734
GWAS Ctlgrs864309734
Max Magnitude8.8
ClinVar
Risk Rs864309734(T;T)
Alt Rs864309734(T;T)
Reference Rs864309734(G;G)
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.49421446C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000203346.1,