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: rs62642937
rs62642937 		0.925 0.120 12 102843706 missense variant G/A snv 4.4E-04 3.6E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 8 1994 2014
dbSNP: rs5030856
rs5030856 		0.925 0.120 12 102843676 missense variant T/C snv 9.9E-05 7.7E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 6 1999 2015
dbSNP: rs76212747
rs76212747 		0.925 0.120 12 102852923 missense variant A/G;T snv 4.8E-04; 2.4E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 5 1994 2015
dbSNP: rs62644499
rs62644499 		0.925 0.120 12 102840472 missense variant C/T snv 1.1E-04 1.1E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1996 2015
dbSNP: rs199475602
rs199475602 		0.925 0.120 12 102855313 missense variant C/G;T snv 2.0E-05; 1.6E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2002 2013
dbSNP: rs5030853
rs5030853 		0.925 0.120 12 102851701 missense variant C/A snv 5.9E-04 3.4E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2008 2015
dbSNP: rs62517205
rs62517205 		0.925 0.120 12 102855241 missense variant G/A 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 1.000 3 2005 2013
dbSNP: rs62642939
rs62642939 		0.925 0.120 12 102851709 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs118203925
rs118203925 		0.925 0.120 12 102912819 missense variant G/A;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
dbSNP: rs199475598
rs199475598 		0.925 0.120 12 102912794 missense variant A/C snv 1.7E-04 2.2E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs5030860
rs5030860 		0.925 0.120 12 102840474 missense variant T/C snv 3.7E-04 2.4E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs62507347
rs62507347 		0.925 0.120 12 102894860 missense variant T/C;G snv
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs62508613
rs62508613 		0.925 0.120 12 102843629 intron variant C/T 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: rs62508689
rs62508689 		0.925 0.120 12 102844333 splice region variant T/C;G snv
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs62514891
rs62514891 		0.925 0.120 12 102917130 start lost T/A;C snv 8.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: 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
dbSNP: rs5030849
rs5030849 		0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1991 1993
dbSNP: rs118092776
rs118092776 		0.925 0.120 12 102912801 missense variant C/T snv 1.7E-03 9.2E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs199475663
rs199475663 		0.925 0.120 12 102866641 missense variant C/G;T snv 2.0E-05
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5030841
rs5030841 		0.925 0.120 12 102912816 missense variant A/G snv 1.2E-04 2.0E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs5030857
rs5030857 		0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001