| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 5 | 111099792 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 5 | 132527285 | intron variant | T/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
3 | 128541707 | downstream gene variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.120 | 6 | 31513522 | upstream gene variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
20 | 57063481 | intergenic variant | T/A | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 135102071 | intron variant | T/C | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
21 | 33060745 | intron variant | G/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 111090753 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 68713254 | intron variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 8299499 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 159712765 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 61476184 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 50621423 | intron variant | T/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 20502242 | intergenic variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 5075628 | intron variant | C/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 112967228 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 39711776 | downstream gene variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 61541105 | upstream gene variant | ATATT/-;ATATTATATT | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 49388381 | intron variant | -/TCT | delins | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |