Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1167104933
rs1167104933
PTS
G 0.800 GeneticVariation CLINVAR Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. 23138986

2013
dbSNP: rs1167104933
rs1167104933
PTS
G 0.800 GeneticVariation CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907

1998
dbSNP: rs1167104933
rs1167104933
PTS
0.800 GeneticVariation UNIPROT