| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
14 | 51225981 | regulatory region variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 51244143 | non coding transcript exon variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 4840065 | non coding transcript exon variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 16658827 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 142798609 | upstream gene variant | C/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 55302774 | intergenic variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 51193499 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
16 | 4985022 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
21 | 34363867 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 17 | 49334880 | intron variant | C/A | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
16 | 4861238 | intron variant | A/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 4951303 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 96443526 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 143053854 | downstream gene variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 224617410 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 94840876 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
16 | 5011882 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 118223544 | intergenic variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 8777531 | intron variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |