Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Increased mean platelet volume
CUI: C1096367
Disease: Increased mean platelet volume
0.700 GeneticVariation CLINVAR
Bernard-Soulier Syndrome, Type B
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
0.700 CausalMutation CLINVAR
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
0.700 GeneticVariation CLINVAR