Variant: rs121908064 

    present in Gene: GP1BA;CHRNE
    present in Chromosome: 17
    Position on Chromosome: 4933367
    Alleles of this Variant: A/G

rs121908064 in GP1BA;CHRNE gene and Impaired ristocetin-induced platelet aggregation PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121908064 in GP1BA;CHRNE gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs121908064 in GP1BA;CHRNE gene and Von Willebrand disease, platelet type PMID 8486780 1993 Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment.

PMID 2052556 1991 Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.

PMID 14521605 2003 Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.

PMID 8384898 1993 Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.