Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.120 | 13 | 20189066 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 13 | 20189197 | stop gained | C/A;T | snv | 6.4E-05 | 0.700 | 0 | |||||||
|
18 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.050 | 1.000 | 5 | 2002 | 2013 | ||||
|
8 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 0.040 | 0.750 | 4 | 2000 | 2012 | ||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.200 | 13 | 20189406 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.120 | 13 | 20189332 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
8 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.120 | 13 | 20189202 | missense variant | C/A;T | snv | 2.8E-04; 1.4E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
10 | 0.763 | 0.280 | 13 | 20189299 | missense variant | C/T | snv | 4.8E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.120 | 13 | 20189325 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.240 | 13 | 20189448 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.882 | 0.200 | 13 | 20189391 | frameshift variant | ACACGTTCTTGCAGCC/- | delins | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.763 | 0.280 | 13 | 20189155 | missense variant | G/A | snv | 1.2E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 |