| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.030 | 0.667 | 3 | 2012 | 2017 | ||||||||
|
0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.240 | 3 | 189790682 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
1.000 | 0.120 | 18 | 13357201 | intron variant | A/C;G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 2 | 162147479 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 2 | 67366671 | intron variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.280 | 13 | 28311271 | intron variant | C/A | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 13 | 27919860 | upstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.925 | 0.120 | 13 | 73334709 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.120 | 13 | 73322084 | intergenic variant | A/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 13 | 27902841 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.200 | 13 | 73342491 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2018 | |||||||||
|
0.827 | 0.120 | 6 | 1339954 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 1 | 3707693 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.200 | 12 | 111783222 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.200 | 6 | 68432116 | intron variant | T/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 1 | 3727199 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.280 | 4 | 24799565 | missense variant | C/T | snv | 8.8E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 2 | 47791093 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 7 | 5982861 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.160 | 17 | 39668292 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |