rs77375493, INSL6;JAK2

N. diseases: 10
Source: CLINVAR ×
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.
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
141 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 11 2005 2019
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
2 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.960 0 2005 2019
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
6 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 0.966 3 2005 2020
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
7 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 0.970 2 2005 2019
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 0 2005 2012
Budd-Chiari Syndrome
CUI: C0856761
Disease: Budd-Chiari Syndrome
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.770 0.900 6 2006 2016
Polycythemia
CUI: C0032461
Disease: Polycythemia
3 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.750 1.000 0 2006 2012
Erythrocytosis familial, 1
CUI: C4551637
Disease: Erythrocytosis familial, 1
9 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.710 1.000 0 2008 2008
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