Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199475630
rs199475630
PAH
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 GeneticVariation BEFREE The genotypes in mild PKU cases were compound heterozygotes with mild (L52S, R241C, R408Q) and severe mutations, whereas a mild HPA case was homozygote of R241C. 15319459

2004