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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 2 | 201284973 | synonymous variant | G/A | snv | 9.5E-02 | 0.10 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 2 | 201284973 | synonymous variant | G/A | snv | 9.5E-02 | 0.10 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.120 | 2 | 201287058 | 3 prime UTR variant | T/C | snv | 0.10 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 2 | 201287058 | 3 prime UTR variant | T/C | snv | 0.10 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 2 | 201287058 | 3 prime UTR variant | T/C | snv | 0.10 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 201276921 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 2 | 201276921 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
2 | 201285251 | missense variant | G/A | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.200 | 2 | 201287439 | 3 prime UTR variant | T/A | snv | 0.33 |
|
Nervous System Diseases; Wounds and Injuries | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.200 | 2 | 201287439 | 3 prime UTR variant | T/A | snv | 0.33 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 |