Variant: rs121908062 

    present in Gene: GP1BA;CHRNE
    present in Chromosome: 17
    Position on Chromosome: 4933350
    Alleles of this Variant: G/T

rs121908062 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 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.

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