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 | 0.040 | 5 | 132679827 | missense variant | G/A | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.040 | 5 | 132678271 | intron variant | A/C | snv | 0.23 |
|
Infections | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 5 | 132678271 | intron variant | A/C | snv | 0.23 |
|
Infections | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 5 | 132678271 | intron variant | A/C | snv | 0.23 |
|
Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 5 | 132680862 | intron variant | C/A;T | snv |
|
Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 5 | 132679877 | missense variant | G/A | snv | 8.1E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 5 | 132680584 | intron variant | AAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAATG/- | delins |
|
Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 5 | 132679782 | missense variant | G/A | snv | 4.0E-06 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 5 | 132674079 | missense variant | C/T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 5 | 132679759 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.080 | 5 | 132672844 | upstream gene variant | G/A | snv | 3.7E-03 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 5 | 132679748 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 5 | 132679748 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 5 | 132679140 | intron variant | G/A | snv | 0.34 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 5 | 132679140 | intron variant | G/A | snv | 0.34 |
|
Infections | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 5 | 132679140 | intron variant | G/A | snv | 0.34 |
|
Infections | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 5 | 132674129 | missense variant | T/C | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.120 | 5 | 132679861 | missense variant | G/A | snv | 3.2E-05 | 8.4E-05 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.120 | 5 | 132678417 | intron variant | A/G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 132678417 | intron variant | A/G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 132682477 | intron variant | C/A | snv | 0.27 | 0.25 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 5 | 132682477 | intron variant | C/A | snv | 0.27 | 0.25 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.160 | 5 | 132678194 | intron variant | G/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 5 | 132678194 | intron variant | G/A;C | snv |
|
Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 5 | 132678194 | intron variant | G/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |