PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Phenylketonurias ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs62508646
rs62508646 		1.000 0.120 12 102844356 missense variant A/C;G snv 6.8E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1993 1995