Variant: rs267607023

present in Gene: RPS26;LOC105369780 present in Chromosome: 12 Position on Chromosome: 56042518 Alleles of this Variant: G/A

rs267607023 in RPS26;LOC105369780 gene and Diamond-Blackfan Anemia 10 PMID 24942156 2014 Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

PMID 20116044 2010 Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.