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 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.720 | 1.000 | 4 | 2008 | 2017 | |||||||
|
1.000 | 0.080 | 7 | 92079771 | missense variant | A/G | snv | 6.1E-04 | 2.5E-03 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
1.000 | 0.080 | 7 | 92102796 | missense variant | C/T | snv | 4.1E-04 | 1.4E-03 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||
|
0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | |||||||
|
1.000 | 0.080 | 7 | 92022864 | protein altering variant | -/AAC | delins | 0.39 | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 7 | 92040690 | missense variant | C/T | snv | 8.2E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 7 | 92101277 | intron variant | A/T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
7 | 91952189 | intron variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
7 | 92037055 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
1.000 | 0.080 | 7 | 91940884 | 5 prime UTR variant | CGGCGGCGG/-;CGG;CGGCGG;CGGCGGCGGCGG;CGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGGCGG | delins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 7 | 92002488 | missense variant | T/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 7 | 92002488 | missense variant | T/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 7 | 92002488 | missense variant | T/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 7 | 92001217 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
7 | 91990782 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.120 | 7 | 92099838 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 92001406 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 92096848 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 92002212 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 7 | 92045186 | missense variant | T/A | snv | 4.0E-06 |
|
0.700 | 0 |