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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 0.720 | 1.000 | 7 | 2012 | 2018 | |||
|
4 | 0.851 | 0.080 | 17 | 8013918 | missense variant | C/G;T | snv | 4.0E-06; 1.5E-04 | 0.710 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.851 | 0.080 | 1 | 197435170 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 0.710 | 1.000 | 1 | 2006 | 2006 | |||
|
8 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 0.700 | 1.000 | 2 | 2000 | 2019 | ||||
|
2 | 0.925 | 0.040 | 17 | 6425781 | stop gained | C/T | snv | 3.3E-04 | 3.8E-04 | 0.700 | 1.000 | 2 | 2000 | 2019 | |||
|
2 | 1.000 | 0.040 | 17 | 65197160 | missense variant | T/C | snv | 1.2E-04 | 1.8E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 14 | 21294785 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 1 | 94060656 | stop gained | G/A;T | snv | 8.0E-06; 4.4E-05 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
4 | 0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.240 | 12 | 88141287 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 5 | 178986393 | stop gained | G/A | snv | 1.5E-04 | 1.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.200 | 1 | 216086749 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.200 | 12 | 88140955 | splice donor variant | C/T | snv | 4.6E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 79487422 | stop gained | G/A;T | snv | 3.2E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.120 | 8 | 86666951 | frameshift variant | AGTCTGGG/- | delins | 5.2E-05 | 7.0E-05 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.040 | 10 | 84200685 | frameshift variant | -/A | delins | 8.4E-06; 4.2E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.040 | 6 | 79493633 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 19 | 47839715 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 14 | 21334710 | splice region variant | G/A | snv | 8.8E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 1 | 197421404 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 14 | 67727056 | missense variant | C/T | snv | 1.6E-05 | 3.5E-05 | 0.700 | 0 |