Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030856
rs5030856
PAH
0.020 GeneticVariation BEFREE The mutation E390G gave rise to mild PKU. 16879198

2006
dbSNP: rs5030856
rs5030856
PAH
0.020 GeneticVariation BEFREE We present a child in whom phenylketonuria was apparently caused by homozygosity for the mutation E390G in exon 11 of the phenylalanine hydroxylase (PAH) gene. 10472529

1999