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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 132557327 | start lost | G/A | snv | 4.8E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2015 | ||||||||
|
5 | 132557454 | splice donor variant | G/T | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2006 | 2009 | |||||||||
|
5 | 132557417 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2006 | 2009 | ||||||||||
|
5 | 132557455 | splice donor variant | T/A | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2006 | 2009 | ||||||||
|
5 | 132557325 | start lost | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 5 | 132552294 | intron variant | C/A | snv | 0.16 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 132549202 | intron variant | C/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 132557395 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |