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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 22 | 28699866 | missense variant | T/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 5 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 28699879 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2015 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.030 | 1.000 | 3 | 2004 | 2008 | ||||
|
5 | 0.851 | 0.120 | 22 | 28695786 | missense variant | C/A;G;T | snv | 2.8E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.827 | 0.120 | 22 | 28712015 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.827 | 0.120 | 22 | 28719414 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
5 | 0.827 | 0.120 | 22 | 28734721 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
7 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 22 | 28725030 | missense variant | C/A;T | snv | 4.0E-06; 6.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 22 | 28725028 | missense variant | G/A;C | snv | 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 28699893 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06; 4.0E-06; 4.8E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 22 | 28694073 | missense variant | G/A;C;T | snv | 1.7E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 28725253 | missense variant | C/G;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.120 | 22 | 28725070 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 28725027 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 28711950 | missense variant | T/A | snv | 8.0E-06 | 8.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 22 | 28734532 | missense variant | C/T | snv | 1.6E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
16 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 22 | 28695190 | missense variant | C/A;G;T | snv | 3.9E-04 | 3.4E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 |