| 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 | 94298853 | intron variant | AAGA/- | delins | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 16269264 | intron variant | -/CTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 91925128 | intron variant | ATCAA/- | delins | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 2175672 | intron variant | C/A | snv | 4.1E-03 | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
5 | 123585409 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 178856319 | missense variant | G/A | snv | 6.0E-02 | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 46129994 | intron variant | T/C | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 6567278 | regulatory region variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 92635096 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 89491309 | 5 prime UTR variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 5 | 75707853 | missense variant | T/A;C | snv | 4.5E-06; 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 106773623 | upstream gene variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
16 | 89647614 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 30046591 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 45518310 | intron variant | C/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.160 | 3 | 41873406 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 57952265 | intergenic variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 32343086 | intron variant | T/C | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 71314327 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 113288576 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 10507905 | intron variant | TA/-;TATA;TATATA;TATATATA;TATATATATA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 31777687 | intron variant | G/A | snv | 5.8E-02 | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 31204374 | upstream gene variant | T/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 148491945 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |