Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781030239
rs781030239
PCCA ; PCCA-DT
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		A 0.700 GeneticVariation CLINVAR Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. 27489777

2016
dbSNP: rs781030239
rs781030239
PCCA ; PCCA-DT
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		A 0.700 GeneticVariation CLINVAR Structure of the PCCA gene and distribution of mutations causing propionic acidemia. 11592820

2001