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: rs5030855
rs5030855 		1.000 0.120 12 102843790 intron variant C/T snv 2.5E-04 2.7E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 10 1991 2015
dbSNP: rs62507341
rs62507341 		1.000 0.120 12 102894931 intron variant A/C snv 4.0E-06 7.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 1998 2019
dbSNP: rs62508613
rs62508613 		0.925 0.120 12 102843629 intron variant C/T 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 0.700 1.000 2 2001 2014
dbSNP: rs12297049
rs12297049 		12 102857897 intron variant C/T snv 0.65
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2015 2015
dbSNP: rs12425434
rs12425434 		1.000 0.040 12 102846289 intron variant C/T snv 0.22
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs147502517
rs147502517 		12 102871642 intron variant G/T snv 1.1E-02
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		0.700 1.000 1 2019 2019
dbSNP: rs1718302
rs1718302 		12 102878908 intron variant G/A snv 0.89
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		0.700 1.000 1 2019 2019
dbSNP: rs1718302
rs1718302 		12 102878908 intron variant G/A snv 0.89
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1718309
rs1718309 		12 102848618 intron variant A/G snv 0.67
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1718309
rs1718309 		12 102848618 intron variant A/G snv 0.67
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs73173954
rs73173954 		12 102933660 intron variant T/A snv 0.15
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs78985461
rs78985461 		12 102901858 intron variant G/A snv 0.14
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs78985461
rs78985461 		12 102901858 intron variant G/A snv 0.14
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		0.700 1.000 1 2019 2019
dbSNP: rs1522296
rs1522296 		1.000 0.120 12 102917009 intron variant G/A;C 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: rs62508613
rs62508613 		0.925 0.120 12 102843629 intron variant C/T snv 7.0E-06
CUI: C4025273
Disease: Atypical hyperphenylalaninemia
Atypical hyperphenylalaninemia 		0.700 0
dbSNP: rs62508613
rs62508613 		0.925 0.120 12 102843629 intron variant C/T snv 7.0E-06
CUI: C4025094
Disease: Reduced phenylalanine hydroxylase activity
Reduced phenylalanine hydroxylase activity 		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: rs199475575
rs199475575 		1.000 0.120 12 102855316 stop gained G/A snv 1.2E-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 0.700 1.000 24 1993 2015
dbSNP: rs5030850
rs5030850 		1.000 0.120 12 102852876 stop gained G/A;C snv 2.0E-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 0.700 1.000 22 1991 2015
dbSNP: rs76296470
rs76296470 		1.000 0.120 12 102894756 stop gained G/A snv 2.8E-05 4.2E-05
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 21 1989 2016
dbSNP: rs62507279
rs62507279 		1.000 0.120 12 102844355 stop gained G/A;T 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: rs62516095
rs62516095 		1.000 0.120 12 102843777 stop gained G/A;C;T snv 2.0E-05; 1.2E-05
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 15 1992 2015
dbSNP: rs5030846
rs5030846 		1.000 0.120 12 102852930 stop gained G/A snv 4.4E-05 4.2E-05
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 14 1990 2015
dbSNP: rs62507336
rs62507336 		1.000 0.120 12 102855281 stop gained 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 11 1993 2014
dbSNP: rs62514952
rs62514952 		1.000 0.120 12 102852843 stop gained C/A snv 3.6E-05 6.3E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 10 1990 2015