Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202247815
rs202247815
PCCA
0.800 GeneticVariation UNIPROT Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 15059621

2004
dbSNP: rs202247815
rs202247815
PCCA
0.800 GeneticVariation UNIPROT Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. 12559849

2003
dbSNP: rs202247815
rs202247815
PCCA
0.800 GeneticVariation UNIPROT 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
dbSNP: rs202247815
rs202247815
PCCA
0.800 GeneticVariation UNIPROT Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. 10329019

1999
dbSNP: rs202247815
rs202247815
PCCA
C 0.800 CausalMutation CLINVAR