Variant: rs398122372 

    present in Gene: ITGB3;THCAT158
    present in Chromosome: 17
    Position on Chromosome: 47307581
    Alleles of this Variant: G/A;C

rs398122372 in ITGB3;THCAT158 gene and Glanzmann Thrombasthenia, Autosomal Dominant PMID 29380037 2018 A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.

PMID 18065693 2008 A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.