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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 2 | 201276908 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.080 | 2 | 201285238 | frameshift variant | GT/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 2 | 201246657 | intron variant | A/G | snv | 0.46 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 201247748 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 2 | 201246657 | intron variant | A/G | snv | 0.46 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins | 0.72 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 201259779 | intron variant | G/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 2 | 201271565 | missense variant | T/A;G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 2 | 201271565 | missense variant | T/A;G | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
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 |
|
Nervous System Diseases; Wounds and Injuries | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
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 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
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 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
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 | 2014 | 2014 | |||||||
|
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 | 2014 | 2014 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |