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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Myelofibrosis
|
7 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.870 | 0.875 | 8 | 2006 | 2016 | |||||
THROMBOCYTHEMIA 2
|
4 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2015 | |||||
Hematologic Neoplasms
|
60 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
Congenital amegakaryocytic thrombocytopenia
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
THROMBOCYTHEMIA 2, SOMATIC
|
1 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Primary Myelofibrosis
|
29 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.100 | 0.929 | 14 | 2006 | 2020 | |||||
Chronic myeloproliferative disorder
|
47 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.100 | 1.000 | 10 | 2008 | 2018 | |||||
Thrombocythemia, Essential
|
37 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.100 | 1.000 | 10 | 2007 | 2020 | |||||
Myeloproliferative disease
|
43 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.070 | 1.000 | 7 | 2008 | 2019 | |||||
Polycythemia Vera
|
38 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2008 | 2010 | |||||
Acute lymphocytic leukemia
|
222 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Adult Myelodysplastic Syndrome
|
20 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Anemia
|
94 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Childhood Myelodysplastic Syndrome
|
20 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Down Syndrome
|
80 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
Familial thrombocytosis
|
5 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
leukemia
|
144 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
Lymphoid leukemia
|
4 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Malignant Neoplasms
|
1641 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
MYELODYSPLASTIC SYNDROME
|
95 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Myeloid Leukemia, Chronic
|
115 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Neoplasms
|
1644 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
168 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Primary malignant neoplasm
|
1374 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
Thrombocytosis
|
12 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |