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.
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
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
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
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
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
Budd-Chiari Syndrome
CUI: C0856761
Disease: Budd-Chiari Syndrome
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.770 0.900 10 2006 2016
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.750 1.000 5 2006 2012
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
14 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.710 1.000 1 2008 2008
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
High density lipoprotein measurement
1440 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 1.000 1 2018 2018
Low density lipoprotein cholesterol measurement
1142 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.700 1.000 1 2018 2018
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
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
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
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 1.000 21 2007 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.889 18 2008 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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 1.000 13 2006 2018
Leukocytosis
CUI: C0023518
Disease: Leukocytosis
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.818 11 2006 2017
leukemia
CUI: C0023418
Disease: leukemia
144 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 1.000 10 2006 2017
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
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
23 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.080 1.000 8 2007 2016