| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | |||||||
|
0.882 | 0.120 | 19 | 45351663 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.240 | 9 | 97675558 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 5 | 83541812 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 14 | 35405286 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 1 | 39899131 | intron variant | C/A | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.080 | 21 | 31662579 | intron variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 3 | 14172913 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 4 | 83295215 | 3 prime UTR variant | C/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.120 | 11 | 1221460 | upstream gene variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 14 | 35405503 | upstream gene variant | A/- | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.200 | 17 | 39723335 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |