SEPTIN5, septin 5, 5413

N. diseases: 29; N. variants: 4
Disease: Macrothrombocytopenia ×
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: C2751260
Disease:
Macrothrombocytopenia 		A 0.700 GeneticVariation CLINVAR