Gene: PAH ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030857
rs5030857
PAH
A 0.700 CausalMutation CLINVAR National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. 11581453

2001
dbSNP: rs62508588
rs62508588
PAH
T 0.700 CausalMutation CLINVAR Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. 11328945

2001
dbSNP: rs62508588
rs62508588
PAH
T 0.700 CausalMutation CLINVAR National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. 11581453

2001
dbSNP: rs5030857
rs5030857
PAH
A 0.700 CausalMutation CLINVAR Mutation analysis anticipates dietary requirements in phenylketonuria. 11043162

2000
dbSNP: rs62508588
rs62508588
PAH
T 0.700 CausalMutation CLINVAR Mutation analysis anticipates dietary requirements in phenylketonuria. 11043162

2000
dbSNP: rs5030857
rs5030857
PAH
A 0.700 CausalMutation CLINVAR Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. 9399896

1997
dbSNP: rs62508588
rs62508588
PAH
T 0.700 CausalMutation CLINVAR Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. 9399896

1997
dbSNP: rs5030857
rs5030857
PAH
A 0.700 CausalMutation CLINVAR Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. 8406445

1993
dbSNP: rs62508588
rs62508588
PAH
T 0.700 CausalMutation CLINVAR Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. 8406445

1993