| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 1 | 99463578 | upstream gene variant | T/C | snv | 2.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 1 | 110479338 | intron variant | C/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 1 | 89068655 | upstream gene variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.040 | 1 | 234897489 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 1 | 106295917 | intergenic variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 72479983 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 2 | 241081801 | splice region variant | G/A | snv | 7.6E-02 | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 2 | 70415675 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 2 | 224600060 | intergenic variant | C/T | snv | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 3 | 186353656 | intron variant | G/A | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 3 | 114997018 | intron variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 3 | 141059454 | intron variant | GAG/- | delins | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 3 | 5645577 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 3 | 36230378 | intergenic variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 3 | 61096480 | intron variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.040 | 3 | 30453840 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 4 | 184084475 | downstream gene variant | C/T | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 4 | 129115280 | 3 prime UTR variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 4 | 52767390 | intron variant | T/C | snv | 1.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 4 | 89500202 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 4 | 40985283 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 5 | 65459777 | intron variant | A/G | snv | 4.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 5 | 5297087 | intron variant | A/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 5 | 81072944 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.040 | 5 | 95647825 | 5 prime UTR variant | C/T | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |