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: 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: rs121913610
rs121913610 		1.000 0.080 1 43339435 stop gained C/A;G;T snv 1.2E-05; 1.2E-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: 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: 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
dbSNP: rs28928907
rs28928907 		0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 10 2000 2018
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.870 0.875 8 2006 2016
dbSNP: rs28928907
rs28928907 		0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.700 1.000 8 2000 2018
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.070 1.000 7 2008 2019
dbSNP: rs121913614
rs121913614 		0.790 0.120 1 43349308 missense variant G/A snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.730 1.000 5 2008 2020
dbSNP: rs121913616
rs121913616 		0.790 0.120 1 43349337 missense variant TG/AA mnv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.050 1.000 5 2009 2014
dbSNP: rs121913614
rs121913614 		0.790 0.120 1 43349308 missense variant G/A snv
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		0.700 1.000 4 2008 2010
dbSNP: rs121913614
rs121913614 		0.790 0.120 1 43349308 missense variant G/A snv
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2 		0.800 1.000 4 2004 2015
dbSNP: rs121913614
rs121913614 		0.790 0.120 1 43349308 missense variant G/A snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 4 2008 2013
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2 		0.700 1.000 4 2004 2015
dbSNP: rs121913616
rs121913616 		0.790 0.120 1 43349337 missense variant TG/AA mnv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.040 1.000 4 2009 2015
dbSNP: rs121913614
rs121913614 		0.790 0.120 1 43349308 missense variant G/A snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.030 1.000 3 2010 2020
dbSNP: rs121913615
rs121913615 		0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.030 1.000 3 2008 2010
dbSNP: rs121913616
rs121913616 		0.790 0.120 1 43349337 missense variant TG/AA mnv
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.810 1.000 3 2006 2009
dbSNP: rs750046020
rs750046020 		0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		Hemic and Lymphatic Diseases 0.030 1.000 3 2009 2018
dbSNP: rs121913614
rs121913614 		0.790 0.120 1 43349308 missense variant G/A snv
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2010
dbSNP: rs121913616
rs121913616 		0.790 0.120 1 43349337 missense variant TG/AA mnv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2008 2009
dbSNP: rs121913616
rs121913616 		0.790 0.120 1 43349337 missense variant TG/AA mnv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2017
dbSNP: rs1448812001
rs1448812001 		1.000 0.080 1 43352645 missense variant T/G snv 4.0E-06
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