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 | 0.120 | 17 | 42544215 | missense variant | C/A;G;T | snv | 1.8E-02; 0.91; 8.1E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 17 | 42543934 | missense variant | G/A | snv |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 42541125 | missense variant | T/C | snv |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 42536507 | missense variant | G/A | snv | 2.8E-05 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 42541024 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 42536384 | missense variant | C/T | snv | 7.1E-06 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 42538734 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 42543857 | missense variant | G/T | snv |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 42543451 | missense variant | G/A | snv |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 42543079 | missense variant | C/T | snv | 3.3E-05 | 4.2E-05 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 42543370 | missense variant | A/C;G | snv | 4.1E-06; 1.6E-05 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 42543235 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | ||||||||
|
0.925 | 0.120 | 17 | 42543997 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 42541185 | missense variant | G/A;T | snv | 2.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 42541189 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 42537475 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 15 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 42536415 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 15 | 1998 | 2017 | |||||||||
|
0.851 | 0.280 | 17 | 42537433 | missense variant | A/G | snv | 3.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 7 | 1998 | 2016 | |||||||
|
0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 |
|
0.700 | 1.000 | 6 | 1998 | 2016 | |||||||
|
0.925 | 0.120 | 17 | 42543882 | stop gained | C/G;T | snv | 4.4E-06; 2.2E-05 |
|
0.700 | 1.000 | 4 | 1996 | 2004 | ||||||||
|
1.000 | 0.120 | 17 | 42536480 | frameshift variant | -/GCGCG | delins |
|
0.700 | 1.000 | 3 | 1999 | 2010 | |||||||||
|
1.000 | 0.120 | 17 | 42536615 | missense variant | C/T | snv |
|
0.700 | 1.000 | 3 | 1998 | 2015 | |||||||||
|
1.000 | 0.120 | 17 | 42543217 | stop gained | G/A | snv |
|
0.700 | 1.000 | 3 | 1999 | 2013 | |||||||||
|
1.000 | 0.120 | 17 | 42543564 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 |
|
0.700 | 1.000 | 3 | 2000 | 2016 | |||||||
|
1.000 | 0.120 | 17 | 42541191 | stop gained | G/T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2000 | 2015 |