Gene: PAH ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030858
rs5030858
PAH
0.900 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs5030849
rs5030849
PAH
0.830 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs5030843
rs5030843
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs5030843
rs5030843
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030857
rs5030857
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030857
rs5030857
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs5030860
rs5030860
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030860
rs5030860
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs62508698
rs62508698
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs62508698
rs62508698
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs62516101
rs62516101
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs62516101
rs62516101
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs74603784
rs74603784
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs74603784
rs74603784
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs75193786
rs75193786
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria Scientific Review Conference: state of the science and future research needs. 24667081

2014
dbSNP: rs75193786
rs75193786
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase deficiency: diagnosis and management guideline. 24385074

2014
dbSNP: rs5030843
rs5030843
PAH
0.820 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs5030857
rs5030857
PAH
0.820 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs5030860
rs5030860
PAH
0.820 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012
dbSNP: rs62508646
rs62508646
PAH
0.820 GeneticVariation UNIPROT Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. 22513348

2012
dbSNP: rs62508698
rs62508698
PAH
0.820 GeneticVariation UNIPROT Clinical utility gene card for: Phenylketonuria. 21915151

2012