Variant: rs121434389

present in Gene: RPL11 present in Chromosome: 1 Position on Chromosome: 23693872 Alleles of this Variant: C/T

rs121434389 in RPL11 gene and Anemia, Diamond-Blackfan PMID 19061985 2008 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.