PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Intellectual Disability ×
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: rs5030849
rs5030849 		0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 1991 1991