Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894711
rs104894711
RPS19 ; MIR6797
T 0.800 CausalMutation CLINVAR

dbSNP: rs786200936
rs786200936
RPS19 ; MIR6797
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894716
rs104894716
RPS19
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908649
rs121908649
RPS19 ; MIR6797
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555841379
rs1555841379
RPS19 ; MIR6797
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1558284033
rs1558284033
RPL5 ; DIPK1A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1568796003
rs1568796003
RPS19 ; MIR6797
ACT 0.700 CausalMutation CLINVAR

dbSNP: rs61762293
rs61762293
RPS19 ; MIR6797
T 0.700 CausalMutation CLINVAR

dbSNP: rs786200935
rs786200935
RPS19 ; MIR6797
C 0.700 CausalMutation CLINVAR

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: rs104894717
rs104894717
RPS19
0.700 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: rs147508369
rs147508369
RPS19
0.700 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: rs1555841301
rs1555841301
RPS19 ; MIR6797
0.700 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: rs782329429
rs782329429
RPS19
0.700 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 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: 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
dbSNP: rs782329429
rs782329429
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: 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: 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: rs104894717
rs104894717
RPS19
0.700 GeneticVariation UNIPROT Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 10590074

1999
dbSNP: rs147508369
rs147508369
RPS19
0.700 GeneticVariation UNIPROT Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. 10590074

1999