ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 215; N. variants: 36
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: rs766503255
rs766503255 		0.882 0.080 17 44372408 missense variant G/A;T 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 0
dbSNP: rs879255514
rs879255514 		0.925 0.080 17 44372407 missense variant C/T 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 0.700 1.000 2 1998 2011