| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 6 | 484453 | downstream gene variant | C/G | snv | 2.3E-02 |
|
0.710 | 1.000 | 1 | 2014 | 2015 | ||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.100 | 0.895 | 19 | 2013 | 2019 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.040 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.030 | 0.667 | 3 | 2013 | 2018 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2016 | |||||||
|
0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 |
|
0.030 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2017 | |||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
0.882 | 0.240 | 1 | 155236381 | missense variant | A/G | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | |||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.020 | 0.500 | 2 | 2013 | 2018 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.020 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.020 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.925 | 0.160 | 1 | 7820623 | missense variant | T/G | snv | 0.17 | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 12 | 21229685 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |