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 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.925 | 0.080 | 9 | 6428530 | intron variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 3 | 189803530 | intron variant | T/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 19 | 5851790 | intron variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 55132413 | intron variant | A/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 5 | 44874903 | regulatory region variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 4 | 1999 | 2010 | |||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 17 | 43115726 | stop gained | TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.200 | 17 | 43093472 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 13 | 32340440 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
1.000 | 17 | 43092959 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 13 | 32394750 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 17 | 43094066 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
0.925 | 0.200 | 17 | 43071113 | stop gained | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 17 | 43094317 | stop gained | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.200 | 17 | 43067649 | stop gained | GTTA/-;GTTAGTTA | delins | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 13 | 32319283 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |