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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 4 | 184659424 | missense variant | T/C;G | snv | 1.2E-05; 4.4E-04 |
|
0.800 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 4 | 184650403 | intron variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 4 | 184659424 | missense variant | T/C;G | snv | 1.2E-05; 4.4E-04 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 184649745 | 5 prime UTR variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 184649745 | 5 prime UTR variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 4 | 184648647 | intron variant | G/T | snv | 9.5E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 184648576 | 5 prime UTR variant | C/T | snv | 0.11 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 184648576 | 5 prime UTR variant | C/T | snv | 0.11 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 184648576 | 5 prime UTR variant | C/T | snv | 0.11 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 4 | 184648576 | 5 prime UTR variant | C/T | snv | 0.11 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 4 | 184650784 | intron variant | G/C | snv | 0.29 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 4 | 184649399 | 5 prime UTR variant | T/C | snv | 0.31 |
|
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 4 | 184649399 | 5 prime UTR variant | T/C | snv | 0.31 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 4 | 184649399 | 5 prime UTR variant | T/C | snv | 0.31 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.160 | 4 | 184649399 | 5 prime UTR variant | T/C | snv | 0.31 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 4 | 184648878 | intron variant | C/A | snv | 0.35 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |