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rs753288303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier for a methylmalonic aciduria mutation
(T;T) 8.8 Methylmalonic aciduria (predicted)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49451518
GeneMUT
is asnp
is mentioned by
dbSNPrs753288303
dbSNP (classic)rs753288303
ClinGenrs753288303
ebirs753288303
HLIrs753288303
Exacrs753288303
Gnomadrs753288303
Varsomers753288303
LitVarrs753288303
Maprs753288303
PheGenIrs753288303
Biobankrs753288303
1000 genomesrs753288303
hgdprs753288303
ensemblrs753288303
geneviewrs753288303
scholarrs753288303
googlers753288303
pharmgkbrs753288303
gwascentralrs753288303
openSNPrs753288303
23andMers753288303
SNPshotrs753288303
SNPdbers753288303
MSV3drs753288303
GWAS Ctlgrs753288303
Max Magnitude8.8
ClinVar
Risk Rs753288303(T;T)
Alt Rs753288303(T;T)
Reference Rs753288303(C;C)
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.49419231C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000203344.2,