Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519753
rs1057519753
JAK1
0.763 0.120 1 64846664 missense variant C/A snv
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.700 1.000 4 2009 2011
dbSNP: rs1057519753
rs1057519753
JAK1
0.763 0.120 1 64846664 missense variant C/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 2 2011 2011
dbSNP: rs1057519753
rs1057519753
JAK1
0.763 0.120 1 64846664 missense variant C/A snv
CUI: C3501854
Disease: Leukemia, Acute, X-Linked
Leukemia, Acute, X-Linked 		0.700 1.000 1 2009 2009
dbSNP: rs1057519753
rs1057519753
JAK1
0.763 0.120 1 64846664 missense variant C/A snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.700 1.000 1 2005 2005