| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 20 | 37403359 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.160 | 5 | 112837812 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.800 | 10 | 1997 | 2004 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.100 | 0.800 | 10 | 1997 | 2004 | |||||||
|
1.000 | 0.080 | 11 | 70206265 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 3 | 14168309 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |