| 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 | 0.040 | 11 | 113559764 | intergenic variant | T/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 113567370 | intergenic variant | C/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 9 | 115094539 | intron variant | A/T | snv | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 115195009 | intron variant | G/A | snv | 5.6E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 117240427 | intergenic variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 117684418 | downstream gene variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 117739366 | intron variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 119893005 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 11 | 12065766 | upstream gene variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 120683373 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 12205599 | intergenic variant | A/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 122201701 | intron variant | A/G | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 12223920 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 125794995 | intergenic variant | T/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 11 | 127110970 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 129765934 | intron variant | C/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 133429517 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 136765048 | intergenic variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 6 | 1402916 | intergenic variant | GACA/- | delins | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 3 | 141059454 | intron variant | GAG/- | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | X | 142772620 | intergenic variant | T/C | snv | 9.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 143479467 | intron variant | T/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 143491193 | intron variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 143491336 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |