Variant: rs104894808 

    present in Gene: GATA1
    present in Chromosome: X
    Position on Chromosome: 48792376
    Alleles of this Variant: G/T

rs104894808 in GATA1 gene and THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA PMID 11809723 2002 Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.

PMID 10700180 2000 Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

PMID 11418466 2001 Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

PMID 11675338 2001 X-linked thrombocytopenia caused by a novel mutation of GATA-1.

rs104894808 in GATA1 gene and Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis PMID 11809723 2002 Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.