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rs864309735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier for a methylmalonic aciduria mutation
(G;G) 8.8 Methylmalonic aciduria (predicted)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49459168
GeneMUT
is asnp
is mentioned by
dbSNPrs864309735
dbSNP (old)rs864309735
ClinGenrs864309735
ebirs864309735
HLIrs864309735
Exacrs864309735
Gnomadrs864309735
Varsomers864309735
Maprs864309735
PheGenIrs864309735
Biobankrs864309735
1000 genomesrs864309735
hgdprs864309735
ensemblrs864309735
gopubmedrs864309735
geneviewrs864309735
scholarrs864309735
googlers864309735
pharmgkbrs864309735
gwascentralrs864309735
openSNPrs864309735
23andMers864309735
23andMe allrs864309735
SNP Nexus

SNPshotrs864309735
SNPdbers864309735
MSV3drs864309735
GWAS Ctlgrs864309735
Max Magnitude8.8
ClinVar
Risk Rs864309735(G;G)
Alt Rs864309735(G;G)
Reference Rs864309735(A;A)
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.49426881T>C
CLNSRC
CLNACC RCV000203328.1,