| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 20356323 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 76490987 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 26015261 | upstream gene variant | G/A | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 128270387 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 160236104 | intron variant | GTT/- | delins | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 19 | 35058218 | intron variant | C/A;T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 68818296 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 2 | 9956965 | intron variant | G/T | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 114389196 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 7 | 19177581 | regulatory region variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 4 | 139829967 | intron variant | G/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 15 | 53590245 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 169790406 | non coding transcript exon variant | G/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 17004185 | intergenic variant | C/T | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 29445226 | intron variant | C/T | snv | 7.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 15 | 75843853 | splice region variant | C/T | snv | 0.54 | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.240 | 7 | 73462836 | non coding transcript exon variant | T/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 17 | 61388336 | non coding transcript exon variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 32427879 | intergenic variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |