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
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
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
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
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
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2010 2010
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 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
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
Chromosome 5, trisomy 5q
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Chronic eosinophilic leukemia
CUI: C0346421
Disease: Chronic eosinophilic leukemia
9 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
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 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
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
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015
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
Constitutional Symptom
CUI: C0009812
Disease: Constitutional Symptom
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2012 2015
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2013 2013
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
Cranial nerve palsies
CUI: C0151311
Disease: Cranial nerve palsies
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2014 2014
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
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
93 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2009 2015
Disseminated eosinophilic collagen disease
CUI: C0263662
Disease: Disseminated eosinophilic collagen disease
2 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007
Duodenal Cancer
CUI: C0541912
Disease: Duodenal Cancer
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2016 2016
Eosinophilia
CUI: C0014457
Disease: Eosinophilia
23 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015
Eosinophilic disorder
CUI: C1306759
Disease: Eosinophilic disorder
22 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015