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.
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
CUI: C2675105
Disease: BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 0
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
38 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.960 274 2005 2019
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.974 269 2005 2020
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 0.970 263 2005 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
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 0.966 175 2005 2020
Myelofibrosis
CUI: C0026987
Disease: Myelofibrosis
7 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.944 72 2005 2019
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 29 2005 2019
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.929 14 2005 2018
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.080 1.000 8 2005 2019
Secondary polycythemia
CUI: C1318533
Disease: Secondary polycythemia
8 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2005 2011
Chronic Neutrophilic Leukemia
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2005 2013
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
11 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2005 2009
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2005 2013
Acute Megakaryocytic Leukemias
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
15 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2005 2006
Idiopathic Hypereosinophilic Syndrome
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
5 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2005 2007
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
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
66 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Myeloid Metaplasia
CUI: C0027013
Disease: Myeloid Metaplasia
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
Sepsis
CUI: C0243026
Disease: Sepsis
144 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
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
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