| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 1.000 | 5 | 2011 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.030 | 1.000 | 3 | 2012 | 2013 | ||||||||
|
0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 152678103 | upstream gene variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2008 | 2015 | |||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 8 | 120798309 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | 5 | 1343679 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.080 | 15 | 49536822 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 1 | 204556440 | 3 prime UTR variant | G/C;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 60210809 | intron variant | G/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |