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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.851 | 0.120 | X | 154432444 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 155240033 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 11 | 5226724 | frameshift variant | CATAA/TGATGCC | delins | 0.700 | 0 | ||||||||
|
14 | 0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.280 | 17 | 42537517 | frameshift variant | CGGCCAGGAG/- | delins | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
15 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 1 | 155235003 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.160 | 3 | 33068940 | stop gained | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.280 | 17 | 42537433 | missense variant | A/G | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.120 | 16 | 1449081 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.280 | 14 | 74486378 | stop gained | G/T | snv | 8.4E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.080 | 10 | 89215021 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 |