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: rs121908467
rs121908467 		1.000 0.080 9 133424434 missense variant C/G snv
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: 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: rs121908471
rs121908471 		1.000 0.080 9 133433478 missense variant G/A snv
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: rs121908474
rs121908474 		1.000 0.080 9 133456138 missense variant G/A 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: rs121908477
rs121908477 		1.000 0.080 9 133428750 missense variant G/C;T snv
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: rs121908478
rs121908478 		1.000 0.080 9 133428696 missense variant C/T snv
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: rs281875286
rs281875286 		1.000 0.080 9 133437887 missense variant G/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: 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: rs281875291
rs281875291 		1.000 0.080 9 133425554 missense variant C/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: 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: rs281875293
rs281875293 		1.000 0.080 9 133428735 missense variant C/A;G 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: rs281875297
rs281875297 		1.000 0.080 9 133424385 missense variant C/G 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: 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: rs281875304
rs281875304 		1.000 0.080 9 133428649 missense variant C/A;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: rs281875335
rs281875335 		1.000 0.080 9 133442403 missense variant A/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 0.700 1.000 20 2001 2011
dbSNP: rs281875336
rs281875336 		1.000 0.080 9 133430046 missense variant G/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: rs281875338
rs281875338 		1.000 0.080 9 133432658 missense variant C/T snv 1.4E-05
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: rs281875340
rs281875340 		1.000 0.080 9 133455402 missense variant C/T snv 7.0E-06
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases 0.700 1.000 20 2001 2011
dbSNP: rs2073932
rs2073932 		9 133440318 intron variant A/G snv 0.57
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2073933
rs2073933 		1.000 0.040 9 133440154 intron variant A/G snv 0.26
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
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: rs28446901
rs28446901 		9 133443675 intron variant C/G snv 0.18
CUI: C3272931
Disease: Fibroblast Growth Factor 23 Measurement
Fibroblast Growth Factor 23 Measurement 		0.700 1.000 1 2018 2018