Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT RPS19 mutations in patients with Diamond-Blackfan anemia. 18412286

2008
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT RPS19 mutations in patients with Diamond-Blackfan anemia. 18412286

2008
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 17517689

2007
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 17517689

2007
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. 15384984

2004
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. 15384984

2004
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. 12750732

2003
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. 12586610

2003
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. 12750732

2003
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. 12586610

2003
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 11112378

2000
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. 11112378

2000
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 10590074

1999
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. 9988267

1999
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 10590074

1999
dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
0.800 GeneticVariation UNIPROT The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. 9988267

1999
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
T 0.800 CausalMutation CLINVAR

dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894717
rs104894717
RPS19
0.700 GeneticVariation UNIPROT RPS19 mutations in patients with Diamond-Blackfan anemia. 18412286

2008
dbSNP: rs147508369
rs147508369
RPS19
0.700 GeneticVariation UNIPROT RPS19 mutations in patients with Diamond-Blackfan anemia. 18412286

2008
dbSNP: rs1555841301
rs1555841301
RPS19 ; MIR6797
0.700 GeneticVariation UNIPROT RPS19 mutations in patients with Diamond-Blackfan anemia. 18412286

2008
dbSNP: rs782329429
rs782329429
RPS19
0.700 GeneticVariation UNIPROT RPS19 mutations in patients with Diamond-Blackfan anemia. 18412286

2008
dbSNP: rs104894717
rs104894717
RPS19
0.700 GeneticVariation UNIPROT Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 17517689

2007
dbSNP: rs147508369
rs147508369
RPS19
0.700 GeneticVariation UNIPROT Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 17517689

2007
dbSNP: rs1555841301
rs1555841301
RPS19 ; MIR6797
0.700 GeneticVariation UNIPROT Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. 17517689

2007