rs368927897, JAK2;INSL6

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.
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.700 1.000 1 2007 2007
Antithrombin III Deficiency
CUI: C0272375
Disease: Antithrombin III Deficiency
52 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2015 2015
Paroxysmal nocturnal hemoglobinuria
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
12 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
Portal Vein Thrombosis
CUI: C0155773
Disease: Portal Vein Thrombosis
8 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2015 2015
Protein S Deficiency
CUI: C0242666
Disease: Protein S Deficiency
14 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2011 2011