| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 19393323 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
2 | 57714152 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 4 | 2016 | 2019 | |||||||||||
|
2 | 113348562 | intron variant | G/T | snv | 0.18 |
|
0.700 | 1.000 | 4 | 2016 | 2018 | ||||||||||
|
9 | 37100528 | TF binding site variant | G/T | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 2 | 66523432 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
14 | 78029418 | regulatory region variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
11 | 116705699 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
11 | 80974138 | intergenic variant | A/T | snv | 6.2E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 101975434 | intron variant | T/G | snv | 4.1E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
11 | 88564572 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
4 | 18326273 | intergenic variant | A/G | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
5 | 1428768 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
12 | 117513345 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
14 | 93752603 | intron variant | G/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
2 | 113328208 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
10 | 123256985 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
1 | 34266383 | TF binding site variant | C/G;T | snv | 0.66 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
19 | 9831586 | upstream gene variant | T/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 29346949 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 122959543 | 3 prime UTR variant | T/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 62858580 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 71387550 | intergenic variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 76704165 | non coding transcript exon variant | G/A | snv | 0.15 | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 114651380 | intron variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 125889260 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |