| 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 | 4 | 38743861 | intergenic variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 4773674 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 142115369 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 5 | 132724891 | intron variant | C/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 234770601 | regulatory region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 2 | 8302118 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 19 | 33230549 | upstream gene variant | C/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 20336395 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
2 | 198049348 | intron variant | G/T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.120 | 15 | 60776148 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
2 | 198085516 | missense variant | G/A | snv | 0.44 | 0.41 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||
|
3 | 141602994 | intron variant | -/CT | delins | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 120888256 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.080 | 10 | 8553876 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 102324851 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.120 | 12 | 56007301 | upstream gene variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
10 | 102466075 | 5 prime UTR variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 128316987 | regulatory region variant | T/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 1 | 2579316 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 33679281 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
9 | 6213829 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |