Disease: Thrombocythemia, Essential ×
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.700 1.000 8 2000 2018
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: 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: 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: 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: 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: 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: 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: 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