ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Disease: THROMBOCYTOPENIA 2 (disorder) ×
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: C1861185
Disease:
THROMBOCYTOPENIA 2 (disorder) 		0.010 GeneticVariation BEFREE Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. 23253071 2013