Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052002
rs796052002
MMUT
A 0.700 CausalMutation CLINVAR Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. 22727635

2012
dbSNP: rs796052002
rs796052002
MMUT
A 0.700 CausalMutation CLINVAR Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. 15643616

2005