Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. 24863100

2014
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 CausalMutation CLINVAR Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. 24863100

2014
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase. 20725044

2010
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 20549364

2010
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 CausalMutation CLINVAR The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 20549364

2010
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 15059621

2004
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 CausalMutation CLINVAR Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 15059621

2004
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Functional characterization of PCCA mutations causing propionic acidemia. 12385775

2002
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 CausalMutation CLINVAR Functional characterization of PCCA mutations causing propionic acidemia. 12385775

2002
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 CausalMutation CLINVAR Potential relationship between genotype and clinical outcome in propionic acidaemia patients. 10780784

2000
dbSNP: rs141371306
rs141371306
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. 10101253

1999