Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76394784
rs76394784
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE The naturally occurring R68S substitution of phenylalanine hydroxylase (PheH) causes phenylketonuria (PKU). 30674554

2019
dbSNP: rs76394784
rs76394784
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented. 11051201

2000