| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
1.000 | 0.120 | 20 | 11010490 | intron variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 20 | 11007451 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 19 | 29805946 | regulatory region variant | T/C | snv | 0.24 |
|
0.720 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 |
|
0.710 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.882 | 0.120 | 18 | 45729946 | 5 prime UTR variant | C/A;T | snv |
|
0.730 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
0.925 | 0.120 | 18 | 45737001 | intron variant | T/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 13 | 32338940 | missense variant | G/A | snv | 3.9E-04 | 4.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 38045401 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv |
|
0.760 | 1.000 | 4 | 2008 | 2015 | |||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 8 | 81074718 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 |