Variant: rs1060499616 

    present in Gene: LOC112267915;RUNX1
    present in Chromosome: 21
    Position on Chromosome: 34880568
    Alleles of this Variant: C/T

rs1060499616 in LOC112267915;RUNX1 gene and Platelet Disorder, Familial, with Associated Myeloid Malignancy PMID 10508512 1999 Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

PMID 25840971 2015 Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

PMID 26175287 2015 Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.

PMID 11830488 2002 In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

PMID 28960434 2018 Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

PMID 23848403 2013 RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.