Variant: rs1448812001 

    present in Gene: MPL
    present in Chromosome: 1
    Position on Chromosome: 43352645
    Alleles of this Variant: T/G

rs1448812001 in MPL gene and Congenital amegakaryocytic thrombocytopenia PMID 25538044 2015 The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.

PMID 16470591 2006 MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.