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: 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: 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: 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: 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