Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030843
rs5030843
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 GeneticVariation BEFREE Thus, the phenylketonuria-associated PAH mutant R158Q had a coupling efficiency of about 80%, compared to the wild-type enzyme under similar conditions. 15963939

2005