Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76296470
rs76296470
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE The present authors describe two entirely different courses of late-detected PKU in two brothers with the same R408W/R111X genotype in the PAH gene. 12542580

2003
dbSNP: rs76296470
rs76296470
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.020 GeneticVariation BEFREE R111X, IVS4nt-1, and five mutations in exon 7 (R241C, R243Q, R252W, A259T, and S273P) accounted for 55% of phenylketonuria (PKU) alleles in Hokkaido. 11142755

2000