Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs769460415
rs769460415
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 Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 2116088

1990