Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770466993
rs770466993
MMUT
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs770466993
rs770466993
MMUT
T 0.700 CausalMutation CLINVAR Long-term outcome in methylmalonic aciduria: a series of 30 French patients. 19375370

2009
dbSNP: rs770466993
rs770466993
MMUT
T 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