Gene: PAH ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62508698
rs62508698
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs62508698
rs62508698
PAH
0.820 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs62516101
rs62516101
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs62516101
rs62516101
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs62516101
rs62516101
PAH
0.820 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs74603784
rs74603784
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs74603784
rs74603784
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs74603784
rs74603784
PAH
0.820 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs199475598
rs199475598
PAH
0.810 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs199475598
rs199475598
PAH
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs199475598
rs199475598
PAH
0.810 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs62508588
rs62508588
PAH
0.810 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs62508588
rs62508588
PAH
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs62508588
rs62508588
PAH
0.810 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs62508715
rs62508715
PAH
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs62508715
rs62508715
PAH
0.810 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs62508715
rs62508715
PAH
0.810 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs62514931
rs62514931
PAH
0.810 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs62514931
rs62514931
PAH
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs62514931
rs62514931
PAH
0.810 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs62516092
rs62516092
PAH
0.810 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs62516092
rs62516092
PAH
0.810 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs62516092
rs62516092
PAH
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs62516103
rs62516103
PAH
0.810 GeneticVariation UNIPROT Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. 1671810

1991
dbSNP: rs62516103
rs62516103
PAH
0.810 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991