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: rs28928907
rs28928907 		0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
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: 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: 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: rs121913612
rs121913612 		1.000 0.080 1 43352768 missense variant C/T 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 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: 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: C3277190
Disease: THROMBOCYTHEMIA 2, SOMATIC
THROMBOCYTHEMIA 2, SOMATIC 		0.700 0
dbSNP: rs1343123940
rs1343123940 		0.925 0.080 1 43339292 frameshift variant T/- del 4.0E-06
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1343123940
rs1343123940 		0.925 0.080 1 43339292 frameshift variant T/- del 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 0
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: rs1553128241
rs1553128241 		1.000 0.080 1 43346929 missense variant T/A snv
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs750046020
rs750046020 		0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2 		0.700 0
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: rs764904424
rs764904424 		1.000 0.080 1 43339286 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 8.0E-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: rs770457041
rs770457041 		1.000 0.080 1 43340502 frameshift variant C/- delins 8.0E-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: 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: 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: 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