Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030851
rs5030851
PAH
0.010 GeneticVariation BEFREE A 31 year old MPKU female with classical PKU (mutations P281L/P281L), diagnosed by newborn screening, had a lifelong history of poor metabolic control. 29085781

2017