Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894273
rs104894273
PTS
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. 22237589

2012
dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR [Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients]. 17160954

2006
dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. 20059486

2010
dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. 11694255

2001
dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 27246466

2017
dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 11438997

2001
dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. 8707300

1996
dbSNP: rs104894275
rs104894275
PTS
G 0.800 CausalMutation CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907

1998
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. 22237589

2012
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. 11388593

2001
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. 7493990

1995
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907

1998
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. 21933604

2011
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients. 10319579

1999
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR [Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]. 19350512

2009
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. 8707300

1996
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. 11694255

2001
dbSNP: rs104894276
rs104894276
PTS
T 0.800 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs104894277
rs104894277
PTS
A 0.800 CausalMutation CLINVAR Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. 23138986

2013
dbSNP: rs104894277
rs104894277
PTS
A 0.800 GeneticVariation CLINVAR Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. 23942198

2014
dbSNP: rs104894277
rs104894277
PTS
A 0.800 CausalMutation CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907

1998
dbSNP: rs104894277
rs104894277
PTS
A 0.800 GeneticVariation CLINVAR Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. 22237589

2012
dbSNP: rs104894277
rs104894277
PTS
A 0.800 GeneticVariation CLINVAR Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. 9450907

1998
dbSNP: rs104894279
rs104894279
PTS
G 0.800 GeneticVariation CLINVAR