Variant: rs121909751 

    present in Gene: GP1BB;SEPT5-GP1BB
    present in Chromosome: 22
    Position on Chromosome: 19724240
    Alleles of this Variant: G/C

rs121909751 in GP1BB;SEPT5-GP1BB gene and Bernard-Soulier Syndrome PMID 9116284 1997 Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.