| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 0 | 2006 | 2010 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 0 | 2011 | 2011 | ||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.710 | 1.000 | 0 | 1998 | 1998 | |||||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
0.710 | 1.000 | 0 | 2012 | 2012 | ||||||||
|
0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 0 | 2017 | 2017 | |||||||||
|
0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 17 | 61859795 | splice donor variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 17 | 7674904 | frameshift variant | CT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.320 | 11 | 108272782 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 17 | 43093322 | frameshift variant | T/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 16 | 23626399 | splice acceptor variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.320 | 3 | 179204536 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.240 | 17 | 61743135 | splice acceptor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 7676043 | missense variant | A/C;G | snv |
|
0.700 | 0 |