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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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
|
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
|
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
|
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)
|
4 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.050 | 1.000 | 5 | 2006 | 2017 | |||||
Polycythemia
|
22 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.750 | 1.000 | 5 | 2006 | 2012 | |||||
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
|
2 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.050 | 1.000 | 5 | 2007 | 2017 | |||||
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
70 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2006 | 2019 | |||||
Mastocytosis, Systemic
|
11 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2005 | 2009 | |||||
Myelofibrosis due to another disorder
|
6 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 0.750 | 4 | 2006 | 2010 | |||||
Primary malignant neoplasm
|
1374 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2006 | 2018 | |||||
Thrombosis of cerebral veins
|
11 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2007 | 2017 | |||||
Acute leukemia
|
50 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.030 | 1.000 | 3 | 2005 | 2013 | |||||
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 | |||||
Refractory anemia with ringed sideroblasts
|
3 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.030 | 1.000 | 3 | 2006 | 2010 |