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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
Neoplasms | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.827 | 0.240 | 5 | 132680652 | intron variant | ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.020 | < 0.001 | 2 | 2016 | 2018 | ||||||||
|
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 | 0.040 | 5 | 132679827 | missense variant | G/A | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
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 | |||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 |