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rs777758903

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8.8 Methylmalonic aciduria (predicted)
(A;G) 3 Carrier for a methylmalonic aciduria mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49435500
GeneMUT
is asnp
is mentioned by
dbSNPrs777758903
dbSNP (old)rs777758903
ClinGenrs777758903
ebirs777758903
HLIrs777758903
Exacrs777758903
Gnomadrs777758903
Varsomers777758903
Maprs777758903
PheGenIrs777758903
Biobankrs777758903
1000 genomesrs777758903
hgdprs777758903
ensemblrs777758903
gopubmedrs777758903
geneviewrs777758903
scholarrs777758903
googlers777758903
pharmgkbrs777758903
gwascentralrs777758903
openSNPrs777758903
23andMers777758903
23andMe allrs777758903
SNPshotrs777758903
SNPdbers777758903
MSV3drs777758903
GWAS Ctlgrs777758903
Max Magnitude8.8
ClinVar
Risk Rs777758903(A;A)
Alt Rs777758903(A;A)
Reference Rs777758903(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 0
HGVS NC_000006.11:g.49403213G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000203399.1,