Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893863
rs104893863
QDPR
0.810 GeneticVariation BEFREE Two mutations, the c.68G>A in QDPR (p.G23D), and the new SPR, IVS2-2A>G mutation at the splice site consensus sequence in intron 2 of the Sepiapterin Reductase gene (SPR; RefSeq NM_003124) on 2p14-p12, were found to be the sole causative mutations in all the patients with DHPR deficiency and SR deficiency studied. 17188538

2007
dbSNP: rs104893863
rs104893863
QDPR
0.810 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs104893863
rs104893863
QDPR
0.810 GeneticVariation UNIPROT A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. 10408783

1999
dbSNP: rs104893863
rs104893863
QDPR
0.810 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs104893863
rs104893863
QDPR
0.810 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993
dbSNP: rs104893863
rs104893863
QDPR
0.810 GeneticVariation UNIPROT Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 2116088

1990
dbSNP: rs104893863
rs104893863
QDPR
T 0.810 CausalMutation CLINVAR

dbSNP: rs750201480
rs750201480
QDPR
A 0.800 GeneticVariation CLINVAR Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations. 26006720

2015
dbSNP: rs104893864
rs104893864
QDPR
0.800 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs104893865
rs104893865
QDPR
0.800 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs104893866
rs104893866
QDPR
0.800 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs750201480
rs750201480
QDPR
0.800 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs104893864
rs104893864
QDPR
0.800 GeneticVariation UNIPROT A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. 10408783

1999
dbSNP: rs104893865
rs104893865
QDPR
0.800 GeneticVariation UNIPROT A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. 10408783

1999
dbSNP: rs104893866
rs104893866
QDPR
0.800 GeneticVariation UNIPROT A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. 10408783

1999
dbSNP: rs750201480
rs750201480
QDPR
0.800 GeneticVariation UNIPROT A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. 10408783

1999
dbSNP: rs104893864
rs104893864
QDPR
0.800 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs104893865
rs104893865
QDPR
0.800 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs104893866
rs104893866
QDPR
0.800 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs750201480
rs750201480
QDPR
A 0.800 GeneticVariation CLINVAR Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs750201480
rs750201480
QDPR
0.800 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs750201480
rs750201480
QDPR
A 0.800 GeneticVariation CLINVAR Molecular basis of dihydropteridine reductase deficiency. 7627180

1995
dbSNP: rs104893864
rs104893864
QDPR
0.800 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993
dbSNP: rs104893865
rs104893865
QDPR
0.800 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993
dbSNP: rs104893866
rs104893866
QDPR
0.800 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993