Gene: PAH ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62644499
rs62644499
PAH
0.810 GeneticVariation UNIPROT

dbSNP: rs5030844
rs5030844
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs5030851
rs5030851
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs62516151
rs62516151
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs62642934
rs62642934
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs62642937
rs62642937
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs62644473
rs62644473
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs77554925
rs77554925
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs79635844
rs79635844
PAH
0.800 GeneticVariation UNIPROT

dbSNP: rs62507329
rs62507329
PAH
0.710 GeneticVariation UNIPROT

dbSNP: rs62644471
rs62644471
PAH
0.710 GeneticVariation UNIPROT

dbSNP: rs118203925
rs118203925
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs5030842
rs5030842
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs5030848
rs5030848
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs62507265
rs62507265
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs62507319
rs62507319
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs62507340
rs62507340
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs62642942
rs62642942
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs62642946
rs62642946
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs62644467
rs62644467
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs796052017
rs796052017
PAH
0.700 GeneticVariation UNIPROT

dbSNP: rs62508646
rs62508646
PAH
0.820 GeneticVariation UNIPROT Phenylketonuria missense mutations in the Mediterranean. 1672294

1991
dbSNP: rs62508646
rs62508646
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: rs62508646
rs62508646
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991
dbSNP: rs62508698
rs62508698
PAH
0.820 GeneticVariation UNIPROT Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. 1672290

1991