| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 17 | 43082287 | intron variant | C/T | snv | 6.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 43099914 | intron variant | G/A;C;T | snv | 0.17 | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 43086602 | intron variant | C/T | snv | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 43064004 | intron variant | G/A | snv | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 17 | 43104967 | intron variant | A/C | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.200 | 17 | 43057147 | intron variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 17 | 43092856 | stop gained | A/C;G | snv |
|
0.700 | 1.000 | 25 | 1994 | 2017 | |||||||||
|
0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 |
|
0.800 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 |
|
0.710 | 1.000 | 21 | 1994 | 2017 | |||||||
|
0.882 | 0.200 | 17 | 43091731 | stop gained | A/C;G | snv | 7.0E-06 |
|
0.700 | 1.000 | 20 | 1994 | 2017 | ||||||||
|
0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 |
|
0.700 | 1.000 | 20 | 1994 | 2017 | ||||||||
|
0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv |
|
0.700 | 1.000 | 20 | 1994 | 2017 | |||||||||
|
0.851 | 0.200 | 17 | 43076573 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.080 | 17 | 43070984 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.080 | 17 | 43091030 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 17 | 43074454 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.200 | 17 | 43045759 | stop gained | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 17 | 43076600 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 17 | 43104260 | stop gained | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.200 | 17 | 43093901 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 17 | 43082503 | stop gained | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.200 | 17 | 43045760 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |