| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
16 | 75235116 | missense variant | A/C | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||||
|
3 | 189869342 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.927 | 41 | 2007 | 2018 | ||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 21 | 45176099 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2007 | |||||||
|
0.776 | 0.160 | 19 | 45407414 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 201880120 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.882 | 0.120 | 18 | 24477006 | missense variant | A/G | snv | 8.6E-02 | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 46576601 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 4 | 94654530 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
22 | 39955861 | missense variant | A/G | snv | 4.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 11 | 44618361 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |