ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Disease: Thrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122374
rs398122374
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0040034
Disease:
Thrombocytopenia 		0.010 GeneticVariation BEFREE These findings suggest a model whereby the integrin β3-L718P mutation contributes to thrombocytopenia through gain-of-function mechanisms. 23253071 2013