Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918251
rs121918251
T 0.700 CausalMutation CLINVAR Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597

2016

dbSNP: rs121918251
rs121918251
T 0.700 CausalMutation CLINVAR Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. 1670635

1991