APC, APC regulator of WNT signaling pathway, 324
N. diseases: 703; N. variants: 681
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
Digestive System Diseases; Neoplasms | 0.800 | 0.861 | 36 | 1997 | 2017 | ||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.853 | 34 | 1997 | 2017 | ||||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
Digestive System Diseases; Neoplasms | 0.100 | 0.909 | 11 | 2000 | 2016 | ||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
Digestive System Diseases; Neoplasms | 0.070 | 1.000 | 7 | 2003 | 2019 | |||||||
|
0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.040 | 1.000 | 4 | 2009 | 2017 | ||||||
|
0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2002 | 2005 | ||||||
|
0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.120 | 5 | 112780878 | missense variant | G/A | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.120 | 5 | 112827194 | stop gained | C/G;T | snv | 2.8E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 5 | 112767314 | missense variant | G/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 112707865 | missense variant | T/C | snv | 1.4E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 5 | 112843098 | missense variant | G/A | snv | 2.0E-02 | 1.7E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 5 | 112845224 | 3 prime UTR variant | T/C | snv | 0.39 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 5 | 112801313 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.080 | 5 | 112761654 | intron variant | A/G | snv | 9.6E-04 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 5 | 112707585 | 5 prime UTR variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 5 | 112839606 | stop gained | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 |