| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
12 | 120982457 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
12 | 103089316 | intron variant | A/G | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
1 | 65620511 | intron variant | A/T | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||
|
0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1 | 159248476 | regulatory region variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1 | 65695778 | intergenic variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1 | 159685728 | intergenic variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||||
|
0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
6 | 41160234 | intron variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2018 | |||||||||
|
16 | 51124799 | intergenic variant | C/T | snv | 3.2E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||||
|
1 | 159689319 | intergenic variant | C/T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.925 | 0.120 | 7 | 73556901 | intron variant | C/T | snv | 9.2E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 159711574 | downstream gene variant | G/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
1 | 159700546 | downstream gene variant | C/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
1.000 | 0.120 | 1 | 159722747 | intergenic variant | T/A | snv | 0.15 |
|
0.800 | 1.000 | 4 | 2012 | 2015 |