| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 12 | 26310149 | intron variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
17 | 82526070 | intron variant | G/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 41849398 | 3 prime UTR variant | A/G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 103011454 | intron variant | -/TAAAA | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 6679939 | downstream gene variant | -/TTAG | delins | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 906510 | intron variant | G/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 8698552 | intron variant | C/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 32486159 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 2 | 164672114 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
8 | 125494452 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 32797244 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 34772048 | intron variant | G/A | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 220015795 | intron variant | AAA/-;A;AA;AAAA | delins | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 41984773 | intron variant | T/G | snv | 7.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 120482327 | intron variant | TT/-;T;TTT;TTTTTTTT;TTTTTTTTTTTTTT | delins | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 23030112 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 43237679 | intron variant | G/A | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 46236831 | intron variant | TTTT/-;TT;TTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 196075973 | intron variant | AA/-;A;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 24293020 | intron variant | -/GTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 137205865 | missense variant | C/G | snv | 0.13 | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 45461799 | non coding transcript exon variant | -/A | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 111359727 | intron variant | C/G | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 56561198 | intron variant | -/T;TT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 181530618 | missense variant | G/A | snv | 0.74 | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |