| 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 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
0.040 | 1.000 | 4 | 2005 | 2009 | |||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2017 | |||||||||
|
0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 211377467 | 3 prime UTR variant | A/C | snv | 0.68 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 10 | 87933148 | frameshift variant | G/- | del |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 12 | 102475786 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 9 | 6428530 | intron variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
3 | 36993560 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.882 | 0.120 | 12 | 52235347 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 3 | 189803530 | intron variant | T/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.925 | 0.080 | 2 | 211378697 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 19 | 5851790 | intron variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 55132413 | intron variant | A/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 87933078 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
3 | 37004401 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 |