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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 125473052 | intron variant | T/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 3780727 | 3 prime UTR variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 120725186 | upstream gene variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 68699743 | 3 prime UTR variant | G/A;C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 41938923 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 28852572 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 238193015 | intron variant | -/A;AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 94506901 | intron variant | G/- | delins | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 17141341 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 109262596 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 33045761 | intron variant | TT/-;T;TTT | delins | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 3375067 | intron variant | A/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 43928975 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 36156680 | intron variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 128083158 | non coding transcript exon variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 46265918 | 3 prime UTR variant | TT/- | del | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 32913683 | downstream gene variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 12230419 | regulatory region variant | T/-;TT;TTT;TTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 100621008 | missense variant | C/T | snv | 2.0E-02 | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 12 | 118244946 | missense variant | C/G;T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 218276735 | intron variant | C/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 203689654 | intron variant | A/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 135028265 | intron variant | AAA/-;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 12459271 | intron variant | G/A | snv | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |