| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 100019615 | intergenic variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 100162225 | regulatory region variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 100167776 | TF binding site variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
2 | 100278425 | 3 prime UTR variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 100346659 | intron variant | C/G | snv | 0.84 | 0.85 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 10045715 | intron variant | G/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 10054883 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 100961996 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 101575144 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
7 | 102050604 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 102077726 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 102085358 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
12 | 102569167 | intergenic variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 102643553 | 5 prime UTR variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 102883860 | intron variant | C/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 102951647 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 102969361 | intron variant | C/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 102976258 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 10299061 | upstream gene variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 103087259 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 103106542 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
11 | 10371921 | intron variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 104609477 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 10483662 | intron variant | C/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |