| 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 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv |
|
0.890 | 0.900 | 9 | 2009 | 2016 | |||||||||
|
0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 |
|
0.850 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 |
|
0.830 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 |
|
0.820 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
1.000 | 6 | 44626422 | intergenic variant | T/G | snv | 0.73 |
|
0.820 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.810 | 1.000 | 1 | 2001 | 2016 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.780 | 0.875 | 8 | 2007 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 1337158 | intergenic variant | T/A | snv | 0.14 |
|
0.720 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.720 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.925 | 0.080 | 14 | 61457521 | missense variant | G/A | snv | 3.1E-02 | 1.6E-02 |
|
0.720 | 1.000 | 2 | 2007 | 2014 | |||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 15 | 58259495 | intron variant | G/A | snv | 4.3E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
21 | 37561586 | intergenic variant | T/C | snv | 0.28 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 |
|
0.710 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.710 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 |
|
0.710 | 1.000 | 1 | 2017 | 2018 | ||||||||
|
13 | 110181552 | intron variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.710 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.914 | 58 | 1998 | 2018 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 0.789 | 19 | 2008 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 0.789 | 19 | 2008 | 2019 | ||||||||
|
0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 |
|
0.100 | 0.727 | 11 | 2010 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.080 | 1.000 | 8 | 2006 | 2018 | |||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.060 | 0.833 | 6 | 2005 | 2016 |