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 | 0.080 | 16 | 68810240 | missense variant | A/G | snv | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 68737416 | start lost | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 68801885 | frameshift variant | C/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 2004 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68811859 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 1994 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 68812149 | stop gained | T/C;G | snv | 3.6E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 2010 | 2018 | |||||||
|
1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2004 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 68801693 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1998 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68829753 | frameshift variant | C/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 2007 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 68810342 | splice donor variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 2004 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2004 | 2015 | |||||||
|
16 | 68819430 | splice region variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2004 | 2013 | ||||||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | -/T;TT | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | -/T;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2008 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 68833320 | frameshift variant | -/C | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 1999 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2002 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 68808552 | frameshift variant | -/A | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68738295 | splice acceptor variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2007 | ||||||||
|
1.000 | 0.080 | 16 | 68738307 | stop gained | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 68737417 | start lost | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2005 | 2011 | ||||||||
|
1.000 | 0.080 | 16 | 68833296 | stop gained | A/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 68823524 | stop gained | TG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2004 | 2008 | ||||||||
|
1.000 | 0.080 | 16 | 68801693 | stop gained | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 1998 | 2014 | ||||||||
|
1.000 | 0.080 | 16 | 68828281 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
16 | 68812265 | splice donor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 1999 | 2008 | ||||||||||
|
1.000 | 0.080 | 16 | 68829785 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2007 | 2015 |