rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
RPS19 mutations in patients with Diamond-Blackfan anemia.
18412286
2008
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
RPS19 mutations in patients with Diamond-Blackfan anemia.
18412286
2008
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
17517689
2007
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
17517689
2007
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
15384984
2004
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
15384984
2004
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
12750732
2003
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
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
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
12750732
2003
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
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
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
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
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
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
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.
10590074
1999
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
9988267
1999
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.
10590074
1999
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.800
GeneticVariation
UNIPROT
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
9988267
1999
rs104894711
RPS19;MIR6797
Diamond-Blackfan Anemia 1
T
0.800
CausalMutation
CLINVAR
rs786200936
RPS19;MIR6797
Diamond-Blackfan Anemia 1
A
0.800
CausalMutation
CLINVAR
rs869066130
RPS19;MIR6797
Anemia, Diamond-Blackfan
C
0.700
CausalMutation
CLINVAR
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
25946618
2015
rs104894717
×
Entrez Id:
6223
Gene Symbol:
RPS19
RPS19
Diamond-Blackfan Anemia 1
0.700
GeneticVariation
UNIPROT
RPS19 mutations in patients with Diamond-Blackfan anemia.
18412286
2008
rs147508369
×
Entrez Id:
6223
Gene Symbol:
RPS19
RPS19
Diamond-Blackfan Anemia 1
0.700
GeneticVariation
UNIPROT
RPS19 mutations in patients with Diamond-Blackfan anemia.
18412286
2008
rs1555841301
RPS19;MIR6797
Diamond-Blackfan Anemia 1
0.700
GeneticVariation
UNIPROT
RPS19 mutations in patients with Diamond-Blackfan anemia.
18412286
2008
rs782329429
×
Entrez Id:
6223
Gene Symbol:
RPS19
RPS19
Diamond-Blackfan Anemia 1
0.700
GeneticVariation
UNIPROT
RPS19 mutations in patients with Diamond-Blackfan anemia.
18412286
2008
rs104894717
×
Entrez Id:
6223
Gene Symbol:
RPS19
RPS19
Diamond-Blackfan Anemia 1
0.700
GeneticVariation
UNIPROT
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
17517689
2007
rs147508369
×
Entrez Id:
6223
Gene Symbol:
RPS19
RPS19
Diamond-Blackfan Anemia 1
0.700
GeneticVariation
UNIPROT
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
17517689
2007