Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917721
rs121917721
0.800 GeneticVariation UNIPROT Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. 12384772

2002

dbSNP: rs121917721
rs121917721
0.800 GeneticVariation UNIPROT Expression and molecular analysis of mutations in prolidase deficiency. 8900231

1996

dbSNP: rs121917721
rs121917721
0.800 GeneticVariation UNIPROT Four novel PEPD alleles causing prolidase deficiency. 8198124

1994

dbSNP: rs121917721
rs121917721
0.800 GeneticVariation UNIPROT A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. 2365824

1990

dbSNP: rs121917721
rs121917721
T 0.800 CausalMutation CLINVAR