Variant: rs1057519748 

    present in Gene: RUNX1
    present in Chromosome: 21
    Position on Chromosome: 34859486
    Alleles of this Variant: G/A

rs1057519748 in RUNX1 gene and Leukemia, Myelocytic, Acute PMID 10508512 1999 Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

rs1057519748 in RUNX1 gene and Platelet Disorder, Familial, with Associated Myeloid Malignancy PMID 20549580 2010 T cell acute lymphoblastic leukemia arising from familial platelet disorder.

PMID 19387465 2009 A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?

PMID 10508512 1999 Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

PMID 28513614 2017 Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.