Disease: Purpura, Thrombotic Thrombocytopenic ×
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: rs1554785242
rs1554785242 		0.882 0.160 9 133426240 missense variant G/T snv
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs142572218
rs142572218 		0.925 0.080 9 133454548 missense variant C/A;T snv 8.3E-04
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.030 1.000 3 2008 2018
dbSNP: rs11575933
rs11575933 		0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs148312697
rs148312697 		0.925 0.080 9 133426218 missense variant G/C snv 4.7E-04 4.3E-04
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2301612
rs2301612 		0.925 0.120 9 133436862 missense variant C/A;G snv 0.38 0.32
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs281875296
rs281875296 		0.925 0.080 9 133437833 missense variant G/A snv 2.0E-05
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs281875299
rs281875299 		0.925 0.080 9 133440344 missense variant C/T snv 1.2E-05
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs281875308
rs281875308 		0.925 0.080 9 133458023 missense variant C/G;T snv 4.0E-06; 1.2E-05 1.4E-05
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs28647808
rs28647808 		0.882 0.160 9 133440409 missense variant C/G snv 6.1E-02 5.8E-02
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs41314453
rs41314453 		1.000 0.080 9 133442704 missense variant C/T snv 9.8E-03 9.9E-03
CUI: C0034155
Disease: Purpura, Thrombotic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006