Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62508646
rs62508646
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme. 7860062

1995
dbSNP: rs62508646
rs62508646
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. 8095248

1993