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: rs387906344
rs387906344 		1.000 0.080 9 133439443 frameshift variant TT/- del
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906346
rs387906346 		1.000 0.080 9 133449851 inframe deletion TGCCCG/- delins 4.0E-06
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908468
rs121908468 		1.000 0.080 9 133448718 missense variant T/G snv 7.0E-06
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.800 1.000 20 2001 2011
dbSNP: rs121908472
rs121908472 		1.000 0.080 9 133454440 missense variant T/G snv 3.2E-05 1.2E-04
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.800 1.000 20 2001 2011
dbSNP: rs71503194
rs71503194 		9 133433011 intron variant T/G snv 5.7E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs28793911
rs28793911 		9 133434817 intron variant T/C;G snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs281875289
rs281875289 		1.000 0.080 9 133426056 missense variant T/C snv
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 20 2001 2011
dbSNP: rs281875298
rs281875298 		1.000 0.080 9 133426266 missense variant T/C snv
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 20 2001 2011
dbSNP: rs281875300
rs281875300 		1.000 0.080 9 133443413 missense variant T/C snv 4.5E-06
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 20 2001 2011
dbSNP: rs2285489
rs2285489 		9 133424254 intron variant T/C snv 0.68
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2285489
rs2285489 		9 133424254 intron variant T/C snv 0.68
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3758349
rs3758349 		9 133427946 intron variant T/C snv 0.34
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0031256
Disease: Petechiae
Petechiae 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0013491
Disease: Ecchymosis
Ecchymosis 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.700 0
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554791280
rs1554791280 		0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0022346
Disease: Icterus
Icterus 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs281875292
rs281875292 		1.000 0.080 9 133428642 missense variant T/A snv
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 20 2001 2011
dbSNP: rs281875294
rs281875294 		1.000 0.080 9 133432639 missense variant T/A snv
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 20 2001 2011
dbSNP: rs387906345
rs387906345 		1.000 0.080 9 133424431 frameshift variant GGAGGACACAGAGCGCTATGTGCTCACCA/- delins 4.0E-06
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs281875303
rs281875303 		1.000 0.080 9 133456543 missense variant G/T snv
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 20 2001 2011
dbSNP: rs1554785242
rs1554785242 		0.882 0.160 9 133426240 missense variant G/T snv
CUI: C0013491
Disease: Ecchymosis
Ecchymosis 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 0