rs77375493, INSL6;JAK2

N. diseases: 181
Source: BEFREE ×
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
37 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.960 273 2005 2019
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
247 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 21 2005 2019
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
35 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
25 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 0.966 174 2005 2020
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 7 2006 2016
Polycythemia
CUI: C0032461
Disease: Polycythemia
20 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
5 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.710 1.000 1 2008 2008
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
44 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
32 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
11 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
1571 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
95 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
79 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
1441 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
2 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
138 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
13 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
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
Acute Erythroblastic Leukemia
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.070 1.000 7 2006 2017
CAMPOMELIC DYSPLASIA
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.070 1.000 7 2007 2009
Hepatic Vein Thrombosis
CUI: C0019154
Disease: Hepatic Vein Thrombosis
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.070 0.857 7 2006 2016
Portal Vein Thrombosis
CUI: C0155773
Disease: Portal Vein Thrombosis
8 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.070 1.000 7 2007 2015
Adult Myelodysplastic Syndrome
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
20 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 0.833 6 2006 2018