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: rs62644475
rs62644475 		1.000 0.120 12 102840486 missense variant A/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2012 2014
dbSNP: rs199475673
rs199475673 		1.000 0.120 12 102855153 missense variant A/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2008 2017
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: rs62508737
rs62508737 		1.000 0.120 12 102843644 splice donor variant A/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2001 2015
dbSNP: rs62514928
rs62514928 		1.000 0.120 12 102855230 stop gained A/C;G snv 4.0E-06; 3.3E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 1993 1993
dbSNP: rs62507340
rs62507340 		1.000 0.120 12 102852914 missense variant A/C;G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs62508575
rs62508575 		1.000 0.120 12 102917129 start lost A/C;G 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 0.700 0
dbSNP: rs75193786
rs75193786 		0.925 0.120 12 102894893 missense variant A/C;G;T snv 2.7E-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 20 1992 2016
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: rs62508722
rs62508722 		1.000 0.120 12 102852830 missense variant A/C;G;T 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 0.700 1.000 1 2015 2015
dbSNP: rs75193786
rs75193786 		0.925 0.120 12 102894893 missense variant A/C;G;T snv 2.7E-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: rs199475652
rs199475652 		1.000 0.120 12 102855332 missense variant A/C;T snv 4.0E-06; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 20 1991 2012
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: 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: 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: rs62517198
rs62517198 		1.000 0.120 12 102855207 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 28 1991 2015
dbSNP: rs62642930
rs62642930 		1.000 0.120 12 102852893 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 28 1991 2015
dbSNP: rs199475595
rs199475595 		1.000 0.120 12 102866614 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 0.700 1.000 20 1991 2012
dbSNP: rs199475607
rs199475607 		1.000 0.120 12 102840426 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 0.700 1.000 20 1991 2012
dbSNP: rs62508594
rs62508594 		1.000 0.120 12 102852938 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 0.700 1.000 20 1991 2012
dbSNP: rs62517179
rs62517179 		1.000 0.120 12 102844410 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 0.700 1.000 20 1991 2012
dbSNP: rs62517194
rs62517194 		1.000 0.120 12 102843686 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 0.700 1.000 20 1991 2012
dbSNP: rs62642916
rs62642916 		1.000 0.120 12 102912837 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 0.700 1.000 20 1991 2012
dbSNP: rs62642918
rs62642918 		1.000 0.120 12 102846911 missense variant A/G 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 0.700 1.000 20 1991 2012
dbSNP: rs5030841
rs5030841 		0.925 0.120 12 102912816 missense variant A/G snv 1.2E-04 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 18 1991 2015