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: rs199475630
rs199475630 		12 102912804 missense variant A/G snv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004