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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.200 | 17 | 7674904 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
20 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676043 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 17 | 7676040 | missense variant | C/A;G;T | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 7673534 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676210 | stop gained | -/CATT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674972 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 |