Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 19954390 | intron variant | T/C | snv | 0.17 | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 19954390 | intron variant | T/C | snv | 0.17 | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 19954390 | intron variant | T/C | snv | 0.17 | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 19965319 | 3 prime UTR variant | G/A | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 19965319 | 3 prime UTR variant | G/A | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 19965319 | 3 prime UTR variant | G/A | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 19960925 | missense variant | C/A;T | snv | 0.13; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 19960925 | missense variant | C/A;T | snv | 0.13; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 19960925 | missense variant | C/A;T | snv | 0.13; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 8 | 19953276 | intron variant | C/A | snv | 9.8E-02 | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 8 | 19953276 | intron variant | C/A | snv | 9.8E-02 | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 8 | 19953276 | intron variant | C/A | snv | 9.8E-02 | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 19965299 | intron variant | C/T | snv | 9.5E-02; 2.1E-04 | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.800 | 1.000 | 6 | 2007 | 2019 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.710 | 1.000 | 1 | 2011 | 2016 | |||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |