| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 100582315 | intergenic variant | C/T | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100639580 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 7 | 100642568 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
11 | 100767524 | intron variant | G/A | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 1014424 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 101856650 | intron variant | G/A | snv | 2.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10224049 | missense variant | A/G;T | snv | 7.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10228310 | intron variant | CAAAACAAAACAAAA/-;CAAAA;CAAAACAAAA;CAAAACAAAACAAAACAAAA;CAAAACAAAACAAAACAAAACAAAA | delins | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10230236 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 10231337 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 10239973 | regulatory region variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 102724025 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 10 | 102869116 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 103011454 | intron variant | -/TAAAA | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 103107201 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 103525141 | non coding transcript exon variant | T/A | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 103551456 | upstream gene variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 107381731 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 107388433 | intron variant | TAAATAAA/-;TAAA;TAAATAAATAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 10739131 | intron variant | C/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 107595 | intron variant | AAAAAAAAA/-;A;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAAAA | delins | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 108639637 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 108640397 | intron variant | TTTTTT/-;TT;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 108641439 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 109265453 | intron variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |