Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199475658
rs199475658
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 GeneticVariation BEFREE Ten functionally hemizygous genotypes, p.G257V, p.R158W, p.L255S, p.G247V, p.F161S, p.R158Q, p.V388M, p.I65T, p.I324N and p.R400K, were frequently associated with classic PKU. 30050108

2018