| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 |
|
0.040 | 1.000 | 4 | 2005 | 2015 | ||||||||
|
0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 |
|
0.040 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.040 | 1.000 | 4 | 2005 | 2019 | ||||||||
|
0.732 | 0.360 | 19 | 9834503 | non coding transcript exon variant | G/A;C | snv |
|
0.040 | 1.000 | 4 | 2013 | 2014 | |||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.040 | 1.000 | 4 | 2012 | 2015 | |||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.040 | 0.500 | 4 | 2013 | 2017 | |||||||||
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
0.040 | 1.000 | 4 | 2004 | 2013 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.040 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.790 | 0.200 | 2 | 241853198 | intron variant | A/G;T | snv |
|
0.040 | 0.500 | 4 | 2016 | 2019 | |||||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.040 | 0.750 | 4 | 2011 | 2013 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.742 | 0.240 | 3 | 138946321 | missense variant | G/C | snv |
|
0.030 | 1.000 | 3 | 2009 | 2018 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.030 | 0.667 | 3 | 2010 | 2019 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.030 | 0.667 | 3 | 2007 | 2019 | ||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 |
|
0.030 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.776 | 0.280 | 13 | 108210293 | missense variant | A/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2002 | 2014 | ||||||||
|
0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv |
|
0.030 | 1.000 | 3 | 2016 | 2016 | |||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.030 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.689 | 0.360 | 12 | 123409283 | 3 prime UTR variant | C/G;T | snv |
|
0.030 | 0.667 | 3 | 2016 | 2019 | |||||||||
|
0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv |
|
0.030 | 1.000 | 3 | 2017 | 2019 | |||||||||
|
0.925 | 0.080 | 17 | 78214076 | upstream gene variant | C/G;T | snv |
|
0.030 | 0.667 | 3 | 2019 | 2020 | |||||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
0.030 | 0.667 | 3 | 2005 | 2014 | ||||||||
|
0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv |
|
0.030 | 0.667 | 3 | 2016 | 2017 | |||||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.030 | 0.333 | 3 | 2005 | 2014 |