rs5030857, PAH

N. diseases: 3
Disease: Hyperphenylalaninaemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperphenylalaninaemia
CUI: C0751435
Disease: Hyperphenylalaninaemia
0.010 GeneticVariation BEFREE The association of 3 mutations (R408W, IVS10 and A403V) common in different European populations with a variable number tandem repeat (VNTR) and short tandem repeat sites (minihaplotype) in the PAH gene was examined in a group of Polish PKU and MHP patients. 11096279 2001