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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 24155679 | missense variant | G/A | snv | 5.6E-05 | 9.8E-05 |
|
0.700 | 0 | ||||||||||||
|
X | 38160977 | missense variant | C/G | snv | 1.1E-05 | 9.5E-06 |
|
0.700 | 0 | ||||||||||||
|
18 | 12673471 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1 | 228276699 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||||
|
14 | 23139485 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2001 | 2006 | |||||||
|
0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1 | 19119624 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 9 | 35801153 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
5 | 171436234 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.925 | 22 | 20992304 | stop gained | C/T | snv | 6.0E-05 | 7.0E-05 |
|
0.700 | 0 | |||||||||||
|
14 | 23140529 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
4 | 140399004 | missense variant | T/C | snv | 3.6E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 2 | 219568050 | splice donor variant | ACCTTTGACTG/- | delins | 8.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
17 | 78491549 | missense variant | C/T | snv | 1.6E-05 | 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 | ||||||||||
|
3 | 73384465 | missense variant | T/A;G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||||
|
0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 3 | 49723632 | missense variant | G/A | snv | 8.0E-05 | 7.0E-06 |
|
0.700 | 0 |