rs796051993, MMAA

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 CausalMutation CLINVAR High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. 23026888 2012
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
0.700 CausalMutation CLINVAR Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 15523652 2004