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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 8 | 92017274 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||||
|
5 | 0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 2 | 219570542 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 16 | 4697038 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
19 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
8 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1 | 147285398 | frameshift variant | A/- | del | 2.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1 | 184717581 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 4 | 143528006 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 6 | 99508705 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
8 | 0.827 | 0.160 | 12 | 112450497 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 29325243 | missense variant | A/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.160 | 2 | 39023118 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 |