| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.160 | 13 | 51946346 | missense variant | C/G;T | snv | 4.1E-06; 3.7E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51958331 | missense variant | A/C | snv | 7.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51944248 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51941186 | missense variant | G/A;C | snv | 5.6E-05 | 3.5E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51941120 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51944170 | missense variant | C/T | snv | 4.8E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51935629 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51941211 | missense variant | C/A;G | snv | 1.6E-05 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51942497 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51941081 | missense variant | C/G;T | snv | 8.0E-06 |
|
0.800 | 1.000 | 23 | 1995 | 2017 | ||||||||
|
1.000 | 0.160 | 13 | 51939062 | missense variant | T/C;G | snv | 3.2E-04; 4.0E-06 |
|
0.800 | 1.000 | 20 | 1995 | 2015 | ||||||||
|
1.000 | 0.160 | 13 | 51942482 | missense variant | C/T | snv | 1.2E-04 | 6.3E-05 |
|
0.800 | 1.000 | 20 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51961906 | missense variant | C/G | snv | 8.8E-05 | 6.3E-05 |
|
0.800 | 1.000 | 20 | 1995 | 2016 | |||||||
|
1.000 | 0.160 | 13 | 51960274 | missense variant | C/T | snv | 1.5E-03; 4.0E-06 | 1.5E-03 |
|
0.800 | 1.000 | 20 | 1995 | 2015 | |||||||
|
1.000 | 0.160 | 13 | 51950328 | missense variant | G/A | snv | 7.0E-06 |
|
0.800 | 1.000 | 20 | 1995 | 2019 | ||||||||
|
1.000 | 0.160 | 13 | 51950069 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.800 | 1.000 | 20 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51949710 | missense variant | C/A | snv |
|
0.800 | 1.000 | 3 | 2007 | 2017 | |||||||||
|
1.000 | 0.160 | 13 | 51958361 | missense variant | T/C | snv | 6.8E-05; 1.1E-04 | 1.5E-04 |
|
0.800 | 1.000 | 3 | 1995 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51946382 | missense variant | C/G | snv |
|
0.800 | 1.000 | 3 | 2005 | 2017 | |||||||||
|
1.000 | 0.160 | 13 | 51975098 | missense variant | T/C | snv | 2.4E-04 | 2.4E-04 |
|
0.800 | 1.000 | 3 | 2004 | 2017 | |||||||
|
0.925 | 0.160 | 13 | 51944162 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 1.000 | 3 | 1995 | 2017 | ||||||||
|
0.925 | 0.160 | 13 | 51941132 | missense variant | T/C | snv | 4.0E-05 | 2.1E-05 |
|
0.800 | 1.000 | 3 | 2008 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51949723 | missense variant | G/A | snv | 1.9E-04 | 3.5E-05 |
|
0.800 | 1.000 | 3 | 1998 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51957580 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 |
|
0.800 | 1.000 | 3 | 1985 | 2017 | |||||||
|
1.000 | 0.160 | 13 | 51937561 | missense variant | G/A;T | snv | 2.4E-05 |
|
0.800 | 1.000 | 3 | 2004 | 2017 |