Variant: rs104894816 

    present in Gene: GATA1
    present in Chromosome: X
    Position on Chromosome: 48792377
    Alleles of this Variant: A/G

rs104894816 in GATA1 gene and THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA PMID 11675338 2001 X-linked thrombocytopenia caused by a novel mutation of GATA-1.

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

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

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.

rs104894816 in GATA1 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs104894816 in GATA1 gene and Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis PMID 18041654 2007 Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia.

PMID 17763153 2007 Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia II. Cytochemistry.

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