| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.080 | 17 | 10643215 | intron variant | CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 17 | 10654924 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.240 | 15 | 48452676 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 2005 | 2009 | |||||||||
|
0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 1998 | 1998 |