| 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 | 2 | 104762499 | upstream gene variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 10489289 | synonymous variant | G/A | snv | 4.2E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 19 | 10489766 | synonymous variant | G/C | snv | 0.41 | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 6 | 104959787 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 8 | 107250906 | 3 prime UTR variant | C/G | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 7 | 107904960 | missense variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 108057799 | intron variant | A/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.360 | 11 | 108253846 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.360 | 11 | 108267258 | stop gained | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 11 | 108267276 | missense variant | T/C | snv | 8.7E-03 | 8.5E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 12 | 108561382 | 5 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.240 | 13 | 109755559 | 3 prime UTR variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 109822839 | regulatory region variant | TGTAGGGGCACAGAGAGA/-;TGTAGGGGCACAGAGAGATGTAGGGGCACAGAGAGA | delins |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.020 | 0.500 | 2 | 2012 | 2019 | ||||||||
|
0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 11 | 111283347 | intron variant | A/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.080 | 11 | 111286111 | 3 prime UTR variant | T/C | snv | 0.72 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 111299815 | missense variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |