| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 160908636 | intergenic variant | G/A | snv | 4.0E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 1 | 155212052 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 1 | 89907211 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 2 | 151625198 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 102241279 | downstream gene variant | G/T | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 65605243 | intron variant | C/A | snv | 0.99 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.708 | 0.280 | 3 | 27285723 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.280 | 3 | 169043635 | intergenic variant | A/G | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 24465348 | intron variant | T/C | snv | 2.7E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 51845211 | non coding transcript exon variant | A/T | snv | 4.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 17864241 | intron variant | T/A | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 18010412 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 5 | 54981998 | splice region variant | C/T | snv | 9.4E-03 | 8.4E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 5 | 42284854 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 5 | 74917726 | non coding transcript exon variant | G/A | snv | 1.9E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.280 | 5 | 56737113 | regulatory region variant | G/T | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 5 | 42170776 | intergenic variant | A/G | snv | 5.7E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 5 | 1336106 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 5 | 1282299 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 |