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: 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: 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: rs5030858
rs5030858 		0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
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: rs773526027
rs773526027 		1.000 0.120 12 102840497 missense variant T/C snv 1.2E-05 2.1E-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 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: 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: 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: rs62507283
rs62507283 		12 102852941 missense variant C/A;G;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: rs79635844
rs79635844 		1.000 0.120 12 102866623 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 2018 2018
dbSNP: rs79931499
rs79931499 		1.000 0.120 12 102840477 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 0.010 1.000 1 2018 2018
dbSNP: rs281865440
rs281865440 		1.000 0.120 12 102866600 missense variant G/A;C snv 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 3 2017 2019
dbSNP: rs118092776
rs118092776 		0.925 0.120 12 102912801 missense variant C/T snv 1.7E-03 9.2E-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 2017 2017
dbSNP: rs5030851
rs5030851 		0.925 0.160 12 102852815 missense variant G/A snv 1.0E-04 1.3E-04
CUI: C0085547
Disease: Phenylketonuria, Maternal
Phenylketonuria, Maternal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1334974448
rs1334974448 		1.000 0.120 12 102840396 splice donor variant CTGTTA/- delins
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 2016 2016
dbSNP: rs1565846805
rs1565846805 		1.000 0.120 12 102852854 missense variant T/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 1.000 1 2016 2016
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: rs764974157
rs764974157 		1.000 0.120 12 102840430 stop gained G/A;T snv 4.0E-06; 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 2 2015 2017
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: rs1555209575
rs1555209575 		1.000 0.120 12 102912832 stop gained C/A 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 1 2015 2015
dbSNP: rs281865430
rs281865430 		1.000 0.120 12 102846932 frameshift variant AG/- delins
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