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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
19 | 13286952 | frameshift variant | -/A | delins | 4.2E-06 |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 13298827 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
1.000 | 19 | 13298847 | frameshift variant | -/A | ins |
|
0.700 | 1.000 | 46 | 1988 | 2017 | ||||||||||
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
0.700 | 1.000 | 46 | 1988 | 2017 | |||||||||
|
1.000 | 0.160 | X | 153725514 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 45 | 1981 | 2014 | |||||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 44 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 41 | 1997 | 2017 | ||||||||
|
0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 |
|
0.700 | 1.000 | 41 | 1989 | 2016 | |||||||
|
0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 |
|
0.700 | 1.000 | 40 | 1990 | 2017 | ||||||||
|
9 | 128203597 | missense variant | G/A | snv |
|
0.700 | 1.000 | 38 | 1983 | 2017 |