| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.605 | 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 | ||||||||||||
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 13 | 32338940 | missense variant | G/A | snv | 3.9E-04 | 4.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 1999 | 2001 | ||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 1999 | 2001 | |||||||||
|
0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 |
|
0.820 | 1.000 | 2 | 1999 | 2019 | ||||||||
|
0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 1999 | 2001 | ||||||||
|
0.851 | 0.200 | 3 | 189928144 | intergenic variant | T/C | snv | 0.24 |
|
0.740 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv |
|
0.760 | 1.000 | 4 | 2008 | 2015 | |||||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 |
|
0.770 | 0.889 | 3 | 2010 | 2017 | ||||||||
|
0.882 | 0.120 | 22 | 38936618 | regulatory region variant | C/T | snv | 0.55 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv |
|
0.730 | 0.750 | 2 | 2010 | 2015 |