rs1057519753, JAK1

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leukemia, Acute, X-Linked
CUI: C3501854
Disease: Leukemia, Acute, X-Linked
1 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 1 2009 2009
Acute lymphoblastic leukemia with lymphomatous features
12 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 4 2009 2011
Acute Promyelocytic Leukemia
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
21 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
38 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 1 2005 2005
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
leukemia
CUI: C0023418
Disease: leukemia
144 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
168 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 2 2011 2011