| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 19393323 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
19 | 9831586 | upstream gene variant | T/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 29346949 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 122959543 | 3 prime UTR variant | T/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 62858580 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 71387550 | intergenic variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 76704165 | non coding transcript exon variant | G/A | snv | 0.15 | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 114651380 | intron variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 125889260 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
16 | 56227517 | intron variant | T/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 101368575 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 55845241 | intron variant | A/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 98202301 | intron variant | T/-;TT;TTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 43192637 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 138433887 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 171131724 | intron variant | A/C | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 98597446 | intergenic variant | C/T | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 138318529 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 48140901 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 109570134 | intron variant | A/G | snv | 0.15 | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 58622593 | intron variant | C/G;T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 11328196 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 4829172 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.040 | 2 | 57760458 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
5 | 174767801 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |