| 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 | 10 | 22581150 | intron variant | TTTC/- | delins | 0.97 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 22 | 29225488 | intron variant | C/T | snv | 0.96 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 14 | 56410241 | intron variant | T/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 93719703 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.200 | 1 | 113630788 | intron variant | A/G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 76143375 | intron variant | A/G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 5 | 164462274 | intron variant | G/T | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 20885650 | intergenic variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 75318066 | intron variant | G/T | snv | 0.86 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 71740732 | intergenic variant | G/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 130027974 | intron variant | C/T | snv | 0.84 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 120481784 | intergenic variant | T/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 105274384 | intron variant | T/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 5 | 82242227 | intron variant | T/A | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 173348166 | intron variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.807 | 0.160 | 14 | 68193711 | intron variant | T/C | snv | 0.80 |
|
0.820 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 121677436 | intergenic variant | T/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 174906885 | intron variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 9 | 116672011 | intron variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 16 | 53821379 | intron variant | A/T | snv | 0.77 |
|
0.720 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 73383544 | intergenic variant | A/G | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.925 | 0.080 | 5 | 91979496 | intergenic variant | T/C | snv | 0.75 |
|
0.710 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 111765903 | 5 prime UTR variant | T/G | snv | 0.71 | 0.75 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 6 | 127279485 | intron variant | G/A | snv | 0.73 |
|
0.740 | 0.800 | 1 | 2008 | 2012 | ||||||||
|
1.000 | 0.080 | 5 | 50793817 | intron variant | G/A | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |