Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750201480
rs750201480
QDPR
A 0.800 GeneticVariation CLINVAR Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency. 8518287

1993
dbSNP: rs750201480
rs750201480
QDPR
A 0.800 GeneticVariation CLINVAR Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993
dbSNP: rs750201480
rs750201480
QDPR
0.800 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993
dbSNP: rs104893864
rs104893864
QDPR
0.800 GeneticVariation UNIPROT Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 2116088

1990
dbSNP: rs104893865
rs104893865
QDPR
0.800 GeneticVariation UNIPROT Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 2116088

1990
dbSNP: rs104893866
rs104893866
QDPR
0.800 GeneticVariation UNIPROT Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 2116088

1990
dbSNP: rs750201480
rs750201480
QDPR
0.800 GeneticVariation UNIPROT Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 2116088

1990
dbSNP: rs104893864
rs104893864
QDPR
C 0.800 CausalMutation CLINVAR

dbSNP: rs104893865
rs104893865
QDPR
G 0.800 CausalMutation CLINVAR

dbSNP: rs104893866
rs104893866
QDPR
C 0.800 CausalMutation CLINVAR

dbSNP: rs1278371188
rs1278371188
QDPR
0.700 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs756639609
rs756639609
QDPR
0.700 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs769460415
rs769460415
QDPR
0.700 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs777797545
rs777797545
QDPR
0.700 GeneticVariation UNIPROT Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 11153907

2000
dbSNP: rs1278371188
rs1278371188
QDPR
0.700 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: rs756639609
rs756639609
QDPR
0.700 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: rs769460415
rs769460415
QDPR
0.700 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: rs777797545
rs777797545
QDPR
0.700 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: rs1278371188
rs1278371188
QDPR
0.700 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs756639609
rs756639609
QDPR
0.700 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs769460415
rs769460415
QDPR
0.700 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs777797545
rs777797545
QDPR
0.700 GeneticVariation UNIPROT Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 9744478

1998
dbSNP: rs1278371188
rs1278371188
QDPR
0.700 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993
dbSNP: rs756639609
rs756639609
QDPR
0.700 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993
dbSNP: rs769460415
rs769460415
QDPR
0.700 GeneticVariation UNIPROT Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 8326489

1993