Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 0 | ||||||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 0 | |||||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32338940 | missense variant | G/A | snv | 3.9E-04 | 4.3E-04 | 0.700 | 0 | ||||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 12 | 38045401 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 20766466 | intron variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 20 | 11010490 | intron variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 8 | 81074718 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 20 | 11007451 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 18 | 45737001 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 20751084 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 |