rs756195708, MMAB

N. diseases: 2
Disease: Methylmalonic acidemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
0.700 GeneticVariation CLINVAR Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. 24813872 2015
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
0.700 GeneticVariation CLINVAR Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. 20556797 2010