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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 7 | 44149763 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 12349804 | intron variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 12349824 | intron variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 170998236 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 4 | 6289001 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 4 | 26406269 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 11 | 17474884 | splice donor variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 12 | 120994264 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 92981507 | missense variant | C/A;T | snv | 3.6E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 92982146 | missense variant | A/C;G | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 7 | 44145176 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 11 | 17395611 | stop gained | G/A | snv | 1.3E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 20 | 45314116 | missense variant | C/T | snv | 1.7E-03 | 4.0E-04 |
|
0.710 | 1.000 | 0 | 2018 | 2018 | |||||||
|
0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 |
|
0.710 | 1.000 | 0 | 2008 | 2008 | ||||||||
|
0.827 | 0.160 | 11 | 17387248 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 240591746 | non coding transcript exon variant | T/C | snv | 0.12 |
|
0.730 | 1.000 | 0 | 2006 | 2014 | ||||||||
|
1.000 | 0.080 | 3 | 171005284 | splice donor variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 240591757 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.770 | 0.857 | 0 | 2006 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 92969849 | missense variant | G/C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 0 | 2007 | 2018 | ||||||||
|
0.925 | 0.160 | 2 | 240603286 | intron variant | C/G;T | snv |
|
0.730 | 1.000 | 0 | 2010 | 2013 | |||||||||
|
0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.080 | 7 | 44150004 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 11 | 17394379 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 |