Variant: rs1558284033 

    present in Gene: DIPK1A;RPL5
    present in Chromosome: 1
    Position on Chromosome: 92833637
    Alleles of this Variant: AACA/-

rs1558284033 in DIPK1A;RPL5 gene and Anemia, Diamond-Blackfan PMID 19773262 2010 Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

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

PMID 23718193 2013 Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.