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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 54760823 | intron variant | TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT | delins | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 96570916 | intergenic variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 67884422 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 20543533 | intergenic variant | TTC/- | delins | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 135099930 | intron variant | TT/-;T;TTT;TTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 75857462 | intron variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 129599504 | intron variant | TT/-;T;TTT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 120920824 | downstream gene variant | TT/-;T;TTT | delins | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 230312486 | intron variant | TT/-;T;TTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 168850753 | intron variant | TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
13 | 40650151 | intron variant | TATA/- | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 230257375 | intron variant | TAAG/-;TAAGTAAG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 10624754 | missense variant | T/G | snv | 0.18 | 0.20 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
1 | 91576688 | regulatory region variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 65097985 | intron variant | T/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 12045275 | intergenic variant | T/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 27730523 | intergenic variant | T/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 512805 | intron variant | T/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 102116028 | intron variant | T/G | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 57410090 | intron variant | T/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 75813412 | missense variant | T/G | snv | 0.29 | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
21 | 15561677 | intron variant | T/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.200 | 12 | 57099944 | intron variant | T/G | snv | 7.8E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
7 | 135661514 | upstream gene variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 5 | 132527285 | intron variant | T/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2009 | 2009 |