| 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 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.925 | 0.080 | 1 | 113896329 | missense variant | A/G | snv | 0.30 | 0.42 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 113241628 | missense variant | C/G;T | snv | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.240 | 2 | 70450862 | synonymous variant | G/A | snv | 0.24 | 0.23 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.120 | 2 | 32137172 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 1989 | 2017 | |||||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 4 | 87977789 | non coding transcript exon variant | C/T | snv | 0.54 | 0.46 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2011 | 2013 |