| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
12 | 112229871 | missense variant | T/C;G | snv | 4.1E-06; 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 32832368 | regulatory region variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 164155317 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2018 | |||||||||||
|
2 | 164191236 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 114804484 | intergenic variant | T/A | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 27249498 | intron variant | G/A | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 57876522 | intron variant | A/G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 47916547 | missense variant | G/A;T | snv | 4.0E-06; 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 16235171 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 112501706 | intron variant | G/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 59620724 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
11 | 2631427 | non coding transcript exon variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
11 | 1980665 | intron variant | T/C | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
11 | 61510303 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 173462117 | intergenic variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 43312975 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 11 | 16895672 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
11 | 44356606 | intergenic variant | C/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
12 | 20021430 | intron variant | G/A | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 126826023 | intron variant | T/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 126825734 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |