ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Disease: Glanzmann Thrombasthenia, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122372
rs398122372
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C1861195
Disease:
Glanzmann Thrombasthenia, Autosomal Dominant 		0.800 GeneticVariation UNIPROT A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. 29380037 2018
dbSNP: rs398122372
rs398122372
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C1861195
Disease:
Glanzmann Thrombasthenia, Autosomal Dominant 		0.800 GeneticVariation UNIPROT A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. 18065693 2008
dbSNP: rs398122372
rs398122372
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C1861195
Disease:
Glanzmann Thrombasthenia, Autosomal Dominant 		C 0.800 CausalMutation CLINVAR
dbSNP: rs398122373
rs398122373
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1861195
Disease:
Glanzmann Thrombasthenia, Autosomal Dominant 		C 0.700 CausalMutation CLINVAR
dbSNP: rs398122374
rs398122374
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C1861195
Disease:
Glanzmann Thrombasthenia, Autosomal Dominant 		C 0.700 CausalMutation CLINVAR