Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 27591164

2017
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. 26370686

2015
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. 24095221

2013
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. 15308131

2004
dbSNP: rs104893851
rs104893851
MMAA
T 0.700 CausalMutation CLINVAR Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 15523652

2004