| 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 | 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 | ||||||||
|
1.000 | 0.080 | 10 | 8553876 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
16 | 88490472 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.200 | 10 | 8073399 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
10 | 62628871 | intron variant | G/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 63250912 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 28463094 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 101186966 | upstream gene variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 51967869 | intron variant | C/G | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 6 | 209159 | upstream gene variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 947789 | intergenic variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 98905525 | intron variant | AAA/-;AA;AAAA | delins | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 92693719 | intron variant | A/- | delins | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 129592027 | intron variant | C/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |