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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.280 | 17 | 27779649 | intron variant | A/G | snv | 0.31 |
|
Skin and Connective Tissue Diseases | 0.820 | 1.000 | 5 | 2010 | 2015 | |||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
Skin and Connective Tissue Diseases | 0.810 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
17 | 27799060 | intron variant | T/C | snv | 1.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 17 | 27771755 | intron variant | G/A | snv | 0.17 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
17 | 27774162 | intron variant | G/A | snv | 6.2E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 27774162 | intron variant | G/A | snv | 6.2E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.120 | 17 | 27770105 | intron variant | T/C | snv | 0.19 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 17 | 27770105 | intron variant | T/C | snv | 0.19 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 17 | 27770105 | intron variant | T/C | snv | 0.19 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 17 | 27770105 | intron variant | T/C | snv | 0.19 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 17 | 27770105 | intron variant | T/C | snv | 0.19 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
17 | 27762239 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 17 | 27767837 | missense variant | C/A;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 17 | 27762841 | synonymous variant | T/C | snv | 0.66 | 0.67 |
|
Nervous System Diseases | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||||
|
0.882 | 0.160 | 17 | 27778906 | synonymous variant | G/A | snv | 0.20 | 0.21 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2016 | 2018 | ||||||
|
1.000 | 0.040 | 17 | 27760941 | intron variant | T/A | snv | 0.49 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2006 | 2008 | |||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Neoplasms | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Digestive System Diseases; Neoplasms | 0.020 | 0.500 | 2 | 2010 | 2018 |