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.
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
5 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
20 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
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2006 2017
Childhood Myelodysplastic Syndrome
CUI: C2347761
Disease: Childhood 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
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
Supraventricular tachycardia
CUI: C0039240
Disease: Supraventricular tachycardia
7 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2007 2013
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
408 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2008 2019
Adult Erythroleukemia
CUI: C2347748
Disease: Adult Erythroleukemia
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.050 1.000 5 2006 2017
Erythroleukemia (Erythroid/Myeloid)
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.050 1.000 5 2006 2017
secondary acute myeloid leukemia
CUI: C0280449
Disease: secondary acute myeloid leukemia
8 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.050 0.800 5 2007 2018
Splanchnic vein thrombosis
CUI: C4022560
Disease: Splanchnic vein thrombosis
2 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.050 1.000 5 2007 2017
Anemia
CUI: C0002871
Disease: Anemia
94 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2015
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2014 2019
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2012
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
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
47 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2011 2015
Coronary Microvascular Disease
CUI: C2827469
Disease: Coronary Microvascular Disease
3 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2007 2009
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
9 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2007 2009
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2014
Hematological Disease
CUI: C0018939
Disease: Hematological Disease
16 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2017
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2006 2019