JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Polycythemia Vera ×
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: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.900 0.960 274 2005 2019
dbSNP: rs10815148
rs10815148 		0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947 		0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12339666
rs12339666 		0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12342421
rs12342421 		0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3808850
rs3808850 		0.925 0.080 9 4983311 upstream gene variant T/A;C snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4495487
rs4495487 		0.925 0.080 9 5072798 intron variant T/C snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7046736
rs7046736 		0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008