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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 9 | 131199023 | intron variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 2 | 199272423 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 11 | 31801619 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 13 | 26337623 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 38407003 | stop gained | C/G;T | snv | 4.0E-06; 1.4E-04; 4.0E-06 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 8 | 60822055 | stop gained | C/A;T | snv | 5.2E-05 | 7.0E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.480 | 17 | 68530405 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | X | 41343802 | stop gained | G/A;T | snv | 5.6E-06 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 18 | 33739086 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv |
|
0.700 | 0 |