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: rs1057516377
rs1057516377 		1.000 0.120 12 102840416 frameshift variant -/A delins
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: rs1057516389
rs1057516389 		1.000 0.120 12 102894758 frameshift variant G/- del
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: rs1057516604
rs1057516604 		1.000 0.120 12 102894732 splice donor variant -/A delins
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: rs1057517009
rs1057517009 		1.000 0.120 12 102852867 frameshift variant G/- delins
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: rs118203925
rs118203925 		0.925 0.120 12 102912819 missense variant G/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 0.700 0
dbSNP: rs118203925
rs118203925 		0.925 0.120 12 102912819 missense variant G/A;T snv 4.0E-06
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1200240274
rs1200240274 		1.000 0.120 12 102851724 missense variant G/A 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 0
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: rs1555203363
rs1555203363 		1.000 0.120 12 102840421 frameshift variant CT/- delins
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: rs1555203401
rs1555203401 		1.000 0.120 12 102840506 frameshift variant A/- del
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: rs1555203666
rs1555203666 		1.000 0.120 12 102843665 frameshift variant C/- del
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: rs1555203951
rs1555203951 		1.000 0.120 12 102846953 splice acceptor variant T/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: rs1555204441
rs1555204441 		1.000 0.120 12 102852822 missense variant G/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: rs1555204616
rs1555204616 		1.000 0.120 12 102854489 splice donor variant ATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCT/- delins
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: rs1555204711
rs1555204711 		1.000 0.120 12 102855231 frameshift variant -/A delins
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: rs1555207979
rs1555207979 		1.000 0.120 12 102894786 missense variant C/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 0
dbSNP: rs1555209932
rs1555209932 		1.000 0.120 12 102917070 splice donor variant 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: rs1565842203
rs1565842203 		1.000 0.120 12 102843692 frameshift variant G/- delins
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: rs1565848110
rs1565848110 		1.000 0.120 12 102855155 frameshift variant -/T delins
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: rs1565853495
rs1565853495 		1.000 0.120 12 102866634 missense variant TC/GT mnv
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: rs199475598
rs199475598 		0.925 0.120 12 102912794 missense variant A/C snv 1.7E-04 2.2E-04
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199475611
rs199475611 		1.000 0.120 12 102866635 missense variant C/A;G;T snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199475634
rs199475634 		1.000 0.120 12 102894904 missense variant G/C;T 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 0
dbSNP: rs199475644
rs199475644 		1.000 0.120 12 102852851 missense variant 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 0
dbSNP: rs199475666
rs199475666 		1.000 0.120 12 102852920 frameshift variant G/- del 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