| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 19 | 1221320 | missense variant | C/A;G;T | snv | 2.9E-05; 1.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 16 | 68833362 | missense variant | A/G | snv | 4.4E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 4 | 13607505 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 4 | 69591303 | intron variant | T/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 10378834 | 3 prime UTR variant | G/A | snv | 0.33 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 8 | 128546982 | intron variant | C/T | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.200 | 14 | 77327940 | missense variant | T/A;C | snv | 4.0E-06; 0.81 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 3 | 128081228 | 3 prime UTR variant | A/G | snv | 0.22 | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 19 | 50850699 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 12 | 63871057 | intron variant | G/A | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |