Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030841
rs5030841
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 GeneticVariation BEFREE We found that the most frequent mutation, L48S, was exclusively associated with the classical (severe) PKU phenotype. 16879198

2006
dbSNP: rs5030841
rs5030841
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 GeneticVariation BEFREE Eleven mutations (IVS10nt546, L48S, R158Q, R261Q, P281L, R261X, R252W, delta T55, IVS7nt1, IVS12nt1, Y414C) represent 55.4% of the Italian PKU alleles, the most common mutations being IVS10nt546 (12.4%) and L48S (9%).All the other mutations are very rare. 8556304

1995
dbSNP: rs5030841
rs5030841
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.030 GeneticVariation BEFREE Allele-specific oligonucleotide (ASO) dot-blot analysis subsequently detected the Leu48----Ser mutation in the haplotype 4 PKU alleles of nine (18.8%) of the 48 unrelated Caucasian PKU families investigated. 1679030

1991