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: rs17292650
rs17292650 		0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs17292650
rs17292650 		0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs141311765
rs141311765 		1.000 0.040 1 43340027 missense variant T/C snv 3.4E-04 1.2E-03
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs146249964
rs146249964 		0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 1994 2014
dbSNP: rs146249964
rs146249964 		0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.700 1.000 2 1994 2001
dbSNP: rs146249964
rs146249964 		0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs146249964
rs146249964 		0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs146249964
rs146249964 		0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2 		0.700 0
dbSNP: rs121913611
rs121913611 		1.000 0.080 1 43340042 missense variant C/T snv 6.0E-05 1.3E-04
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: rs587778514
rs587778514 		0.925 0.080 1 43338564 frameshift variant CT/- del 5.2E-05 4.9E-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 4 2001 2016
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: rs148434485
rs148434485 		1.000 0.080 1 43338146 stop gained C/T snv 3.2E-05 3.5E-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 1 2006 2006
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: rs758428763
rs758428763 		1.000 0.080 1 43339339 missense variant T/C snv 8.0E-06 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 0
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: rs121913613
rs121913613 		1.000 0.080 1 43349267 stop gained G/A;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 0.700 0
dbSNP: rs770166362
rs770166362 		1.000 0.040 1 43349298 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587778516
rs587778516 		1 43338592 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1006158872
rs1006158872 		1.000 0.080 1 43346931 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.100 0.929 14 2006 2020
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.100 1.000 10 2008 2018
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.100 1.000 10 2007 2020