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: 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: 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: 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