Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750840362
rs750840362
PCCA
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.010 GeneticVariation BEFREE Mutation analysis confirmed the diagnosis of propionic acidemia (PA) with compound heterozygosity for 2 new missense mutations L417W/Q293E in the PCCA gene, with the mother carrying the Q293E and the father the L417W mutation. 15164333

2004