| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 150 | 2004 | 2020 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.973 | 149 | 2004 | 2020 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.923 | 13 | 1999 | 2020 | ||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.100 | 0.900 | 10 | 2012 | 2020 | |||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2018 | 2020 | ||||||||
|
0.763 | 0.200 | 20 | 54170358 | intron variant | C/T | snv | 0.46 |
|
0.020 | 0.500 | 2 | 2020 | 2020 | ||||||||
|
0.807 | 0.240 | 20 | 54169534 | intron variant | T/C | snv | 0.20 |
|
0.020 | 1.000 | 2 | 2020 | 2020 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.020 | 1.000 | 2 | 2012 | 2020 | |||||||
|
0.925 | 0.080 | 7 | 127890817 | intron variant | A/G | snv | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 7 | 76304395 | downstream gene variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 108561382 | 5 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.925 | 0.080 | 15 | 51314872 | intron variant | C/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.851 | 0.080 | 4 | 174540379 | non coding transcript exon variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.160 | 19 | 50406456 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 17 | 41521908 | intron variant | C/T | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 74538379 | synonymous variant | G/C | snv | 0.77 | 0.64 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.790 | 0.160 | 20 | 54171474 | intron variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.752 | 0.200 | 20 | 54164552 | synonymous variant | C/T | snv | 0.12 | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
1.000 | 0.080 | 1 | 109822839 | regulatory region variant | TGTAGGGGCACAGAGAGA/-;TGTAGGGGCACAGAGAGATGTAGGGGCACAGAGAGA | delins |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.882 | 0.120 | 16 | 68784487 | intron variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 25208712 | 3 prime UTR variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 12 | 25206009 | 3 prime UTR variant | T/C | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.790 | 0.080 | 16 | 68778398 | intron variant | A/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2019 | 2020 | ||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.900 | 0.945 | 42 | 2007 | 2019 |