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 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 |
|
Digestive System Diseases; Neoplasms | 0.850 | 1.000 | 6 | 2008 | 2016 | |||||||
|
1.000 | 0.160 | 16 | 68810269 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases | 0.800 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||||
|
0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.720 | 1.000 | 2 | 2016 | 2018 | |||||||
|
1.000 | 0.080 | 16 | 68811854 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 4 | 2005 | 2013 | |||||||
|
0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 2 | 2008 | 2013 | |||||||
|
0.790 | 0.080 | 16 | 68778398 | intron variant | A/T | snv | 0.29 |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 2 | 2019 | 2020 | |||||||
|
0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 12 | 2006 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 68811854 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 12 | 2002 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 68812263 | splice region variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 11 | 2006 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 68812264 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 11 | 1999 | 2018 | ||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 10 | 2002 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 68829753 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 2001 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 9 | 2004 | 2014 | |||||||
|
1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 2002 | 2016 | ||||||||
|
0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 1998 | 2015 | ||||||||
|
0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1998 | 2012 | ||||||||
|
1.000 | 0.080 | 16 | 68812263 | splice region variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 2006 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 68811682 | splice acceptor variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 2008 | 2012 | ||||||||
|
0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 2006 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 68737418 | start lost | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 2004 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 68737417 | start lost | T/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 6 | 1990 | 2017 | ||||||||
|
1.000 | 0.080 | 16 | 68811859 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1994 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 68823524 | stop gained | TG/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 6 | 2004 | 2015 |