rs766503255, ITGA2B

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glanzmann Thrombasthenia, Autosomal Dominant
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
5 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.800 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2019 2019
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
61 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.700 0
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011