Variant: rs5030764 

    present in Gene: GP9
    present in Chromosome: 3
    Position on Chromosome: 129061921
    Alleles of this Variant: A/G

rs5030764 in GP9 gene and Bernard-Soulier Syndrome PMID 25370924 2015 Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.

PMID 8481514 1993 Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 14510954 2003 Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany.

PMID 8049428 1994 Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.

rs5030764 in GP9 gene and Macrothrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs5030764 in GP9 gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.