GP1BB, glycoprotein Ib platelet subunit beta, 2812

N. diseases: 192; N. variants: 7
Disease: Thrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909752
rs121909752
Entrez Id: 2812;5413;100526833
Gene Symbol: GP1BB;SEPTIN5;SEPT5-GP1BB
GP1BB;SEPTIN5;SEPT5-GP1BB
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019