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 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 27784860 | intron variant | T/A;C | snv |
|
Infections; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 27771755 | intron variant | G/A | snv | 0.17 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 17 | 27761829 | intron variant | G/A | snv | 0.48 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
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 | ||||||||||
|
1.000 | 0.040 | 17 | 27789822 | intron variant | C/T | snv | 0.35 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 17 | 27802186 | intron variant | G/A;C | snv |
|
Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 17 | 27801702 | intron variant | G/A | snv | 1.5E-02 |
|
Infections; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 17 | 27769447 | intron variant | C/A | snv | 0.32 |
|
Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 17 | 27765011 | intron variant | C/T | snv | 0.67 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
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 | ||||||||||
|
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 | ||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 0.500 | 2 | 2010 | 2017 | ||||||
|
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 | ||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
Pathological Conditions, Signs and Symptoms; Infections | 0.010 | 1.000 | 1 | 2013 | 2013 |