Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758008398
rs758008398
CCATAAATT 0.700 CausalMutation CLINVAR [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia]. 23045948

2012

dbSNP: rs758008398
rs758008398
CCATAAATT 0.700 CausalMutation CLINVAR Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. 15781192

2005