ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 215; N. variants: 36
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: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011