Variant: rs869066130

present in Gene: MIR6797;RPS19 present in Chromosome: 19 Position on Chromosome: 41869725 Alleles of this Variant: AA/-;A;AAA

rs869066130 in MIR6797;RPS19 gene and Anemia, Diamond-Blackfan PMID 15059149 2004 Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.

PMID 11112378 2000 Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

PMID 25946618 2015 Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

PMID 10590074 1999 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

PMID 15075082 2004 Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.