Variant: rs121909750 

    present in Gene: SEPTIN5;SEPT5-GP1BB;GP1BB
    present in Chromosome: 22
    Position on Chromosome: 19724181
    Alleles of this Variant: A/G;T

rs121909750 in SEPTIN5;SEPT5-GP1BB;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.