| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 21862024 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2008 | 2012 | |||||||||||
|
7 | 21787584 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2008 | 2012 | |||||||||||
|
1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 |
|
0.700 | 1.000 | 3 | 2012 | 2015 | |||||||
|
7 | 21687528 | splice donor variant | G/C | snv |
|
0.700 | 1.000 | 3 | 2008 | 2012 | |||||||||||
|
7 | 21702773 | stop gained | C/A;T | snv | 3.6E-05 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | ||||||||||
|
0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
7 | 21616294 | splice donor variant | C/A;T | snv | 1.3E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 21619178 | stop gained | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 21620016 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 21808041 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 21900000 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 21748743 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
7 | 21842641 | stop gained | C/T | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||||
|
7 | 21854418 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
7 | 21681585 | stop gained | G/T | snv |
|
0.700 | 0 | ||||||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 |