| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 18 | 31405413 | intron variant | G/A | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 18 | 32231169 | intron variant | C/T | snv | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.240 | 12 | 21357370 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 18 | 31681955 | intron variant | C/T | snv | 0.89 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 127129099 | intergenic variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 18 | 30217168 | intergenic variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 18 | 31699870 | regulatory region variant | C/T | snv | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 20 | 4699655 | stop gained | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.100 | 0.980 | 49 | 1986 | 2019 | ||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.100 | 0.931 | 29 | 1998 | 2018 | ||||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.100 | 1.000 | 12 | 2001 | 2019 | |||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 1991 | 2018 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.050 | 0.600 | 5 | 2013 | 2017 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.050 | 0.600 | 5 | 2013 | 2017 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.040 | 1.000 | 4 | 2000 | 2005 | ||||||||
|
0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2003 | 2011 | |||||||||
|
0.882 | 0.120 | 18 | 31592992 | missense variant | G/C | snv |
|
0.030 | 1.000 | 3 | 1999 | 2018 | |||||||||
|
0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv |
|
0.030 | 1.000 | 3 | 1999 | 2015 | |||||||||
|
0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv |
|
0.030 | 1.000 | 3 | 2003 | 2019 | |||||||||
|
0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 |
|
0.030 | 1.000 | 3 | 2005 | 2009 | |||||||
|
0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv |
|
0.030 | 1.000 | 3 | 1994 | 2018 | |||||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2010 |