MPL, MPL proto-oncogene, thrombopoietin receptor, 4352
N. diseases: 222; N. variants: 31
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2008 | 2010 | |||||||
|
0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 |
|
Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||||
|
0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv |
|
Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.882 | 0.120 | 1 | 43338136 | missense variant | G/T | snv | 3.5E-03 | 1.4E-02 |
|
Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2004 | 2013 | ||||||
|
0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |