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: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.710 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2584620
Disease: Thrombophilia, hereditary
Thrombophilia, hereditary 		0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0040100
Disease: Thymoma
Thymoma 		0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.040 1.000 4 2009 2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.040 1.000 4 2009 2012
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.020 1.000 2 2009 2015
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: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		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: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		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: C1292779
Disease: Myelodysplastic Syndrome with Isolated del(5q)
Myelodysplastic Syndrome with Isolated del(5q) 		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: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q 		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: C1292754
Disease: Mediastinal (Thymic) Large B-Cell Lymphoma
Mediastinal (Thymic) Large B-Cell Lymphoma 		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: C0001546
Disease: Adjustment Disorders
Adjustment Disorders 		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: C4303761
Disease: Familial thrombocytosis
Familial 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: C0025167
Disease: Megakaryocytic hyperplasia
Megakaryocytic hyperplasia 		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: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI 		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: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		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: C0740302
Disease: 5q-syndrome
5q-syndrome 		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: 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: C2930974
Disease: Acute erythroleukemia
Acute erythroleukemia 		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: 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: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.020 1.000 2 2010 2019
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2010 2010