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: rs17292650
rs17292650 		0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		Hemic and Lymphatic Diseases 0.020 1.000 2 2004 2013
dbSNP: rs587778514
rs587778514 		0.925 0.080 1 43338564 frameshift variant CT/- del 5.2E-05 4.9E-05
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.700 1.000 2 2001 2007
dbSNP: rs587778515
rs587778515 		1.000 0.080 1 43338705 frameshift variant T/- delins 4.0E-05 4.2E-05
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2001 2006
dbSNP: rs750046020
rs750046020 		0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2015
dbSNP: rs750046020
rs750046020 		0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2015
dbSNP: rs755257605
rs755257605 		1.000 0.080 1 43352303 splice donor variant G/- delins 2.1E-05
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2007 2013
dbSNP: rs763568293
rs763568293 		1.000 0.080 1 43338633 missense variant C/T snv 1.2E-05 6.3E-05
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2006 2015
dbSNP: rs1057519752
rs1057519752 		1.000 0.080 1 43349307 missense variant A/C;G;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1196161699
rs1196161699 		1.000 0.080 1 43338640 missense variant T/C snv 7.0E-06
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 1 2010 2010
dbSNP: rs121913614
rs121913614 		0.790 0.120 1 43349308 missense variant G/A snv
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007