| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 102561501 | intergenic variant | TTTTTTTT/-;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 30305977 | non coding transcript exon variant | TTTT/-;TTT;TTTTT;TTTTTT;TTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
8 | 56201961 | intron variant | TTTT/-;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 75653661 | intron variant | TT/-;T;TTT;TTTT | delins | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 17963642 | intron variant | TT/-;T;TTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 19840722 | 3 prime UTR variant | TT/- | del | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 141394029 | intron variant | TG/- | del |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
11 | 75571007 | intron variant | T/G | snv | 0.77 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
1.000 | 0.080 | 12 | 4275678 | intron variant | T/G | snv | 1.5E-02 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
12 | 56752285 | missense variant | T/G | snv | 0.12 | 0.14 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
15 | 83888924 | intron variant | T/G | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
13 | 50537219 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2008 | 2019 | ||||||||||
|
2 | 120856420 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
15 | 83904289 | intron variant | T/G | snv | 0.63 |
|
0.700 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
4 | 81228852 | intergenic variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
4 | 72610297 | intergenic variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||||
|
14 | 53623359 | intron variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 6751282 | missense variant | T/G | snv | 0.20 | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 9 | 121650669 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 48069751 | intron variant | T/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
12 | 93733149 | intron variant | T/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
12 | 65745389 | intergenic variant | T/G | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 96102823 | intergenic variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 145201899 | regulatory region variant | T/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 55612021 | splice region variant | T/G | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |