Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030859
rs5030859
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 GeneticVariation BEFREE Both p.R241C and p.R408Q are classified as mild phenylketonuria (PKU) or mild hyperphenylalaninemia (MHP) mutation, which may explain the fact that classical PKU is very rare in Taiwan (n=4, or one in 413,035). 14722928

2004
dbSNP: rs5030859
rs5030859
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 GeneticVariation BEFREE In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X. 10471838

1999
dbSNP: rs5030859
rs5030859
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 GeneticVariation BEFREE This missense mutation results in the substitution of Arg408 for Gln408 (R408Q) and accounts for about 5% of phenylketonuria (PKU) chromosomes among Chinese. 1355066

1992