PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Hyperphenylalaninaemia ×
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: rs62516060
rs62516060 		0.925 0.120 12 102844404 missense variant G/A snv 7.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs62516151
rs62516151 		0.925 0.120 12 102894826 missense variant G/T snv 7.6E-05 4.2E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs62642934
rs62642934 		0.925 0.120 12 102846948 missense variant T/C snv 2.0E-05 2.8E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74486803
rs74486803 		0.925 0.120 12 102855315 missense variant C/A;G;T snv 5.2E-05; 2.8E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs763115697
rs763115697 		0.925 0.120 12 102846930 missense variant C/A;G;T snv 4.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0