rs766503255, ITGA2B

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glanzmann Thrombasthenia, Autosomal Dominant
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
0.800 GeneticVariation UNIPROT
Glanzmann Thrombasthenia, Autosomal Dominant
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
0.800 CausalMutation CLINVAR
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.700 CausalMutation CLINVAR
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
0.010 GeneticVariation BEFREE Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 21454453 2011