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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.070 | 1.000 | 7 | 2006 | 2017 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.030 | 1.000 | 3 | 2005 | 2013 | |||||||
|
0.851 | 0.120 | 9 | 5081780 | synonymous variant | G/A | snv | 0.53 | 0.62 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.120 | 9 | 5078360 | missense variant | A/G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||||||
|
1.000 | 0.120 | 9 | 5078361 | missense variant | G/C | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2008 | 2012 | |||||||
|
0.925 | 0.120 | 9 | 5078362 | missense variant | A/C;G;T | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||||||
|
0.925 | 0.120 | 9 | 5078395 | missense variant | C/G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2007 | 2018 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.050 | 1.000 | 5 | 2006 | 2017 | ||||||||
|
0.807 | 0.200 | 9 | 5070058 | splice region variant | T/C | snv | 3.6E-04 | 1.1E-03 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Hemic and Lymphatic Diseases | 0.060 | 0.833 | 6 | 2006 | 2018 | |||||||
|
9 | 5064193 | intron variant | T/C | snv | 0.25 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
Hemic and Lymphatic Diseases | 0.040 | 1.000 | 4 | 2006 | 2015 | |||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |