| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 124813204 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
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 | ||||||||||
|
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 | ||||||||||
|
6 | 150052058 | intergenic variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 55180855 | intergenic variant | T/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 43866494 | intergenic variant | T/A | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 128993202 | intron variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 8735729 | intergenic variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 61541105 | upstream gene variant | ATATT/-;ATATTATATT | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 309127 | missense variant | A/C;G;T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 6532544 | 3 prime UTR variant | G/A | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 26320235 | missense variant | A/G | snv | 0.67 | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 27650705 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 89436943 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 24924339 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 63841301 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | ||||||||||
|
1 | 10552101 | intron variant | A/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 97336188 | intron variant | G/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 43322411 | upstream gene variant | C/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |