Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1029096863
rs1029096863
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		T 0.700 CausalMutation CLINVAR Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. 21545677

2012
dbSNP: rs1029096863
rs1029096863
MMAA
CUI: C1855109
Disease: Methylmalonic aciduria cblA type
Methylmalonic aciduria cblA type 		T 0.700 CausalMutation CLINVAR Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia. 16247646

2006