TUBB1, tubulin beta 1 class VI, 81027

N. diseases: 22; N. variants: 14
Disease: Macrothrombocytopenia ×
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: rs121918555
rs121918555 		0.925 0.040 20 59024379 missense variant C/T snv 4.0E-06; 6.8E-05; 4.0E-06 2.8E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.710 1.000 2 2009 2019
dbSNP: rs1234442507
rs1234442507 		1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs371852125
rs371852125 		1.000 0.040 20 59023863 missense variant G/A snv 3.6E-05 2.1E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs463312
rs463312 		1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2009 2009