Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369296618
rs369296618
MMAB
A 0.700 CausalMutation CLINVAR Neurocognitive phenotype of isolated methylmalonic acidemia. 22614770

2012
dbSNP: rs369296618
rs369296618
MMAB
A 0.700 CausalMutation CLINVAR Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase. 21604717

2011
dbSNP: rs369296618
rs369296618
MMAB
A 0.700 CausalMutation CLINVAR Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. 16410054

2006