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, 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
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
High density lipoprotein measurement
CUI: C0392885
Disease: 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
CUI: C0202117
Disease: 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
5q-syndrome
CUI: C0740302
Disease: 5q-syndrome
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Acquired von Willebrand's disease
CUI: C0272362
Disease: Acquired von Willebrand's disease
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2017 2017
Acromegaly
CUI: C0001206
Disease: Acromegaly
25 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2012 2012
Activated Protein C Resistance
CUI: C0600433
Disease: Activated Protein C Resistance
30 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Acute Chest Syndrome
CUI: C0742343
Disease: Acute Chest Syndrome
135 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2016 2016
Acute erythroleukemia
CUI: C2930974
Disease: Acute erythroleukemia
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2010 2010
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2017 2017
Adjustment Disorders
CUI: C0001546
Disease: Adjustment Disorders
4 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2005 2005
anemia hemoglobin
CUI: C0740992
Disease: anemia hemoglobin
1 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015
Arteriopathic disease
CUI: C0852949
Disease: Arteriopathic disease
14 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2019 2019
Autoimmune thrombocytopenia
CUI: C0242584
Disease: Autoimmune thrombocytopenia
7 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2019 2019
B-CELL MALIGNANCY, LOW-GRADE
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
19 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2012 2012
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1 2012 2012
Blast Phase
CUI: C0005699
Disease: Blast Phase
14 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1 2006 2006
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2014 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2019 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 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