| 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 | 0.080 | 19 | 11089263 | upstream gene variant | C/G | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11089319 | upstream gene variant | GGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11089361 | upstream gene variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11089396 | upstream gene variant | C/T | snv | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11089400 | upstream gene variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11089407 | upstream gene variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11089409 | upstream gene variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11089414 | upstream gene variant | C/A;G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11089452 | upstream gene variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 19 | 11089551 | start lost | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11089560 | stop gained | G/A | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11089576 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11089588 | frameshift variant | T/-;TT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11089617 | splice donor variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11100221 | splice acceptor variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 11100237 | stop gained | G/A;T | snv | 3.1E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 19 | 11100246 | stop gained | G/A;T | snv | 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 11100252 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 19 | 11100255 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11100271 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 19 | 11100286 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11100291 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 11100310 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 19 | 11100312 | stop gained | C/T | snv |
|
0.700 | 0 |