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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 10 | 94780653 | stop gained | G/A | snv | 5.4E-03 | 1.5E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.080 | 14 | 20455915 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.080 | 1 | 23362976 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 7 | 99664085 | synonymous variant | T/C | snv | 4.5E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 10 | 94775077 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 22 | 19963693 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 22 | 23958393 | missense variant | C/T | snv | 5.3E-02 | 6.6E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 7 | 55201223 | synonymous variant | C/T | snv | 0.14 | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 22 | 23982936 | missense variant | G/A | snv | 1.5E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 6 | 159682631 | missense variant | A/C | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 12 | 111790494 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 17 | 58279136 | missense variant | T/C | snv | 2.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.240 | 6 | 159682510 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.160 | 1 | 15524988 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 19 | 43561236 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.160 | 17 | 78224125 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 2 | 38075045 | missense variant | G/A | snv | 5.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |