| 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 | 8 | 42328734 | intron variant | T/C | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 1 | 65469811 | intron variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 1 | 26419836 | intron variant | A/G | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 2132404 | 3 prime UTR variant | T/C;G | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 4 | 174460480 | regulatory region variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.080 | 4 | 74821455 | intergenic variant | G/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 47445653 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 55019329 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 3 | 9756823 | missense variant | G/A | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 11 | 66334745 | missense variant | C/A;T | snv | 6.9E-06; 5.5E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 3 | 14168309 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 7 | 5987005 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 17 | 18333172 | missense variant | C/G;T | snv | 4.0E-06; 4.4E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 4 | 109913367 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 9 | 21971055 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 19 | 18281184 | missense variant | G/A | snv | 6.2E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 3 | 37048526 | frameshift variant | -/ATTG | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 10 | 103394332 | 5 prime UTR variant | A/G | snv | 0.34 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 13 | 28320278 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 15 | 66468004 | intron variant | A/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 4 | 184756267 | 3 prime UTR variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 160027292 | missense variant | C/G | snv | 0.13 | 0.13 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 3 | 37028855 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 17 | 68531661 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |