Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74603784
rs74603784
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE The PKU mutation G46S is associated with a severe form of the disease, resulting in an aggregation-prone protein. 21871828

2011
dbSNP: rs74603784
rs74603784
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. 8829656

1996