Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62514927
rs62514927
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 GeneticVariation BEFREE An A-to-G transition in exon 6 of the gene results in the substitution of Cys204 for Tyr204 (Y204C) and identifies about 13 and 5% of all PKU chromosomes in the Chinese and Japanese populations, respectively. 2071149

1991