ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Disease: Glanzmann Thrombasthenia, Autosomal Dominant ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398122372
rs398122372 		1.000 0.080 17 47307581 missense variant G/A;C snv 4.0E-06
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 2 2008 2018
dbSNP: rs398122373
rs398122373 		1.000 0.080 17 47302841 splice donor variant G/C snv
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398122374
rs398122374 		0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0