Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607023
rs267607023
0.800 GeneticVariation UNIPROT Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 24942156

2014

dbSNP: rs267607023
rs267607023
0.800 GeneticVariation UNIPROT Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 20116044

2010

dbSNP: rs267607023
rs267607023
A 0.800 CausalMutation CLINVAR

dbSNP: rs143951267
rs143951267
G 0.700 CausalMutation CLINVAR Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 26136524

2015

dbSNP: rs143951267
rs143951267
G 0.700 CausalMutation CLINVAR Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. 24942156

2014

dbSNP: rs143951267
rs143951267
G 0.700 CausalMutation CLINVAR Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 20116044

2010

dbSNP: rs143951267
rs143951267
T 0.700 CausalMutation CLINVAR

dbSNP: rs148622862
rs148622862
A 0.700 CausalMutation CLINVAR

dbSNP: rs148942765
rs148942765
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555208596
rs1555208596
C 0.700 GeneticVariation CLINVAR

dbSNP: rs786200892
rs786200892
TG 0.700 CausalMutation CLINVAR

dbSNP: rs786203998
rs786203998
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045919
rs797045919
T 0.700 CausalMutation CLINVAR