Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253851
rs879253851
MMUT
TTCCA 0.700 CausalMutation CLINVAR Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 16281286

2006
dbSNP: rs879253851
rs879253851
MMUT
TTCCA 0.700 CausalMutation CLINVAR Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 16435223

2005
dbSNP: rs879253851
rs879253851
MMUT
TTCCA 0.700 CausalMutation CLINVAR mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. 10923046

2000