| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||||||
|
1 | 41905116 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 10624754 | missense variant | T/G | snv | 0.18 | 0.20 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 90659273 | intron variant | C/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 90004338 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 103316504 | regulatory region variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 68713254 | intron variant | C/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 116868761 | intergenic variant | G/A | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | |||||||||||
|
0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 157664393 | intergenic variant | C/T | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 61476184 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
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 | ||||||||||
|
1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 199043349 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
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 |