PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
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: rs199475602
rs199475602 		0.925 0.120 12 102855313 missense variant C/G;T snv 2.0E-05; 1.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 52 1991 2016
dbSNP: rs62508730
rs62508730 		1.000 0.120 12 102852935 missense variant C/A;T snv 4.0E-06; 1.7E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 51 1991 2015
dbSNP: rs62642926
rs62642926 		1.000 0.120 12 102912842 missense variant G/C snv 9.5E-05 9.1E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 50 1975 2015
dbSNP: rs76394784
rs76394784 		1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 47 1991 2015
dbSNP: rs62516101
rs62516101 		1.000 0.120 12 102843683 missense variant C/G;T snv 8.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 46 1991 2015
dbSNP: rs62508588
rs62508588 		1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 45 1991 2018
dbSNP: rs62516092
rs62516092 		1.000 0.120 12 102844359 missense variant G/C snv 1.0E-04 1.3E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 45 1991 2015
dbSNP: rs74503222
rs74503222 		1.000 0.120 12 102852912 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 42 1991 2015
dbSNP: rs199475598
rs199475598 		0.925 0.120 12 102912794 missense variant A/C snv 1.7E-04 2.2E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 41 1991 2018
dbSNP: rs140175796
rs140175796 		1.000 0.120 12 102877469 missense variant T/A snv 6.4E-05 9.1E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 40 1991 2016
dbSNP: rs62508646
rs62508646 		1.000 0.120 12 102844356 missense variant A/C;G snv 6.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 40 1991 2016
dbSNP: rs5030857
rs5030857 		0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 39 1993 2015
dbSNP: rs62516098
rs62516098 		1.000 0.120 12 102843748 missense variant G/T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 39 1991 2015
dbSNP: rs62642935
rs62642935 		1.000 0.120 12 102846938 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 39 1991 2016
dbSNP: rs199475579
rs199475579 		1.000 0.120 12 102852917 missense variant C/A;T snv 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 38 1991 2015
dbSNP: rs62516141
rs62516141 		1.000 0.120 12 102843688 missense variant T/C snv 2.0E-05 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 38 1991 2016
dbSNP: rs62642936
rs62642936 		1.000 0.120 12 102846932 missense variant A/G snv 2.0E-05 1.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 38 1988 2014
dbSNP: rs199475643
rs199475643 		0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 37 1991 2015
dbSNP: rs199475679
rs199475679 		1.000 0.120 12 102866599 missense variant C/G;T snv 2.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 37 1991 2019
dbSNP: rs62642939
rs62642939 		0.925 0.120 12 102851709 missense variant C/T snv 4.0E-06 2.8E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 37 1991 2015
dbSNP: rs76212747
rs76212747 		0.925 0.120 12 102852923 missense variant A/G;T snv 4.8E-04; 2.4E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 37 1991 2016
dbSNP: rs5030847
rs5030847 		1.000 0.120 12 102852903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 36 1989 2017
dbSNP: rs5030858
rs5030858 		0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.900 1.000 36 1987 2019
dbSNP: rs62642933
rs62642933 		1.000 0.120 12 102851703 missense variant A/C snv 1.0E-04 7.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 36 1991 2012
dbSNP: rs5030853
rs5030853 		0.925 0.120 12 102851701 missense variant C/A snv 5.9E-04 3.4E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 35 1992 2016