PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Phenylketonurias ×
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: rs5030858
rs5030858 		0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 18 1991 2019
dbSNP: rs5030849
rs5030849 		0.851 0.280 12 102852875 missense variant C/A;G;T snv 2.2E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 1991 2002
dbSNP: rs62514952
rs62514952 		1.000 0.120 12 102852843 stop gained C/A snv 3.6E-05 6.3E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 1990 1996
dbSNP: rs75193786
rs75193786 		0.925 0.120 12 102894893 missense variant A/C;G;T snv 2.7E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 1993 2001
dbSNP: rs5030841
rs5030841 		0.925 0.120 12 102912816 missense variant A/G snv 1.2E-04 2.0E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 1991 2006
dbSNP: rs5030847
rs5030847 		1.000 0.120 12 102852903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 1994 2011
dbSNP: rs5030859
rs5030859 		1.000 0.120 12 102840492 missense variant C/T snv 4.8E-05 3.5E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 1992 2004
dbSNP: rs62516101
rs62516101 		1.000 0.120 12 102843683 missense variant C/G;T snv 8.4E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 1995 1998
dbSNP: rs5030851
rs5030851 		0.925 0.160 12 102852815 missense variant G/A snv 1.0E-04 1.3E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2003 2012
dbSNP: rs5030856
rs5030856 		0.925 0.120 12 102843676 missense variant T/C snv 9.9E-05 7.7E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1999 2006
dbSNP: rs62508588
rs62508588 		1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1991 2018
dbSNP: rs62508646
rs62508646 		1.000 0.120 12 102844356 missense variant A/C;G snv 6.8E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1993 1995
dbSNP: rs62508698
rs62508698 		1.000 0.120 12 102852819 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1989 1997
dbSNP: rs74603784
rs74603784 		1.000 0.120 12 102912823 missense variant C/G;T snv 7.6E-05 2.8E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1996 2011
dbSNP: rs76296470
rs76296470 		1.000 0.120 12 102894756 stop gained G/A snv 2.8E-05 4.2E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2000 2003
dbSNP: rs76394784
rs76394784 		1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2000 2019
dbSNP: rs1445893088
rs1445893088 		1.000 0.120 12 102840468 missense variant G/T snv 4.0E-06
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs199475567
rs199475567 		1.000 0.120 12 102912791 missense variant C/A;T snv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs199475572
rs199475572 		1.000 0.120 12 102877475 missense variant T/A;C snv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs199475630
rs199475630 		12 102912804 missense variant A/G snv
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs199475658
rs199475658 		1.000 0.120 12 102843646 missense variant C/G;T snv 4.0E-06
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs199475663
rs199475663 		0.925 0.120 12 102866641 missense variant C/G;T snv 2.0E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs5030843
rs5030843 		1.000 0.120 12 102866632 missense variant C/G;T snv 8.0E-06; 9.2E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs5030846
rs5030846 		1.000 0.120 12 102852930 stop gained G/A snv 4.4E-05 4.2E-05
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs5030853
rs5030853 		0.925 0.120 12 102851701 missense variant C/A snv 5.9E-04 3.4E-04
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996