Source: ALL

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: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.060 1.000 6 2005 2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		0.050 0.800 5 2007 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4721505
Disease: Sarcoma, Myeloid
Sarcoma, Myeloid 		0.010 1.000 1 2014 2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0338575
Disease: Sagittal Sinus Thrombosis
Sagittal Sinus Thrombosis 		0.010 1.000 1 2017 2017
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2013 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2981142
Disease: Refractory anemia, without ringed sideroblasts, without excess blasts
Refractory anemia, without ringed sideroblasts, without excess blasts 		0.010 1.000 1 2013 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4303426
Disease: Refractory anemia with ringed sideroblasts associated with marked thrombocytosis
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis 		0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		0.030 1.000 3 2006 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		0.020 1.000 2 2009 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0457506
Disease: Reactive thrombocytosis
Reactive thrombocytosis 		0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0242073
Disease: Pulmonary congestion
Pulmonary congestion 		0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.800 0.966 175 2005 2020
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2006 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1516553
Disease: Prefibrotic/Early Primary Myelofibrosis
Prefibrotic/Early Primary Myelofibrosis 		0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3805232
Disease: Post polycythaemia vera myelofibrosis
Post polycythaemia vera myelofibrosis 		0.020 1.000 2 2011 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		0.070 1.000 7 2007 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 0.960 274 2005 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.750 1.000 5 2006 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		0.010 1.000 1 2019 2019