rs77375493, INSL6;JAK2

N. diseases: 187
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.
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2011 2017
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2008 2019
Vascular Hemostatic Disorders
CUI: C0600502
Disease: Vascular Hemostatic Disorders
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1 2014 2014
Undifferentiated leukemia
CUI: C1378511
Disease: Undifferentiated leukemia
2 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2013 2013
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
328 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2011 2011
Trigeminal Neuralgia
CUI: C0040997
Disease: Trigeminal Neuralgia
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1 2018 2018
Toxic Epidermal Necrolysis
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
29 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2017 2017
Thymoma
CUI: C0040100
Disease: Thymoma
20 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2008 2008
Thrombosis of cerebral veins
CUI: C0151945
Disease: Thrombosis of cerebral veins
11 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2007 2017
Thrombophilia, hereditary
CUI: C2584620
Disease: Thrombophilia, hereditary
9 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2008 2008
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
43 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.080 1.000 8 2007 2014
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
12 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.920 25 2006 2018
Thrombocytopenia due to platelet alloimmunization
7 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2019 2019
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.982 222 2005 2020
THROMBOCYTHEMIA 3
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 1.000 2 2005 2012
Thalassemia Intermedia
CUI: C0271979
Disease: Thalassemia Intermedia
8 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Susceptibility to viral and mycobacterial infection
3 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2014 2014
Supraventricular tachycardia
CUI: C0039240
Disease: Supraventricular tachycardia
7 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2007 2013
Subarachnoid Hemorrhage
CUI: C0038525
Disease: Subarachnoid Hemorrhage
26 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015
Subacute Bacterial Endocarditis
CUI: C0014122
Disease: Subacute Bacterial Endocarditis
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2008 2009
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 0
Splanchnic vein thrombosis
CUI: C4022560
Disease: Splanchnic vein thrombosis
2 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.050 1.000 5 2007 2017
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 1.000 2 2017 2018
Septicemia
CUI: C0036690
Disease: Septicemia
141 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005