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: rs62644499
rs62644499 		0.925 0.120 12 102840472 missense variant C/T snv 1.1E-04 1.1E-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 13 1992 2015
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: 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: 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: 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: 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: rs62516109
rs62516109 		1.000 0.120 12 102855204 missense variant A/G 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 35 1991 2014
dbSNP: rs62642932
rs62642932 		1.000 0.120 12 102852882 missense variant C/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 35 1991 2014
dbSNP: rs199475632
rs199475632 		1.000 0.120 12 102855322 missense variant T/C snv 7.0E-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 33 1991 2017
dbSNP: rs62514919
rs62514919 		1.000 0.120 12 102855273 missense variant A/G snv 7.0E-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 32 1991 2015
dbSNP: rs62514927
rs62514927 		1.000 0.120 12 102855231 missense variant T/C snv 1.2E-05 7.0E-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 32 1991 2015
dbSNP: rs62642929
rs62642929 		1.000 0.120 12 102894776 missense variant G/T snv 5.2E-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 32 1991 2016
dbSNP: rs62642937
rs62642937 		0.925 0.120 12 102843706 missense variant G/A snv 4.4E-04 3.6E-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 32 1993 2016
dbSNP: rs74486803
rs74486803 		0.925 0.120 12 102855315 missense variant C/A;G;T snv 5.2E-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 32 1991 2016
dbSNP: rs199475663
rs199475663 		0.925 0.120 12 102866641 missense variant C/G;T snv 2.0E-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 31 1991 2015