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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.925 | 0.120 | 21 | 33549517 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 9 | 137108433 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 12 | 23740986 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 17 | 63837200 | stop gained | -/AGGTAGAACCTTATCTGCCATCTTC | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 19 | 39480879 | stop gained | C/A;G;T | snv | 3.1E-03; 4.6E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 19 | 39482885 | stop gained | G/C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 1 | 23848684 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 14 | 74486378 | stop gained | G/T | snv | 8.4E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 11 | 68906074 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 16 | 89280070 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2003 | 2006 | ||||||||
|
0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2006 | 2011 |