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 | 5 | 75587055 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 22 | 28725027 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 | 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 | |||||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 75590429 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | X | 67711662 | missense variant | G/A | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.240 | X | 67722976 | missense variant | G/A;T | snv | 0.800 | 0 | ||||||||
|
3 | 0.882 | 0.200 | X | 67717595 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67723711 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67723786 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67711680 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67711459 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | X | 67721909 | missense variant | C/G | snv | 1.4E-03 | 1.4E-03 | 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 | |||||||
|
16 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | X | 67546171 | missense variant | C/A;T | snv | 4.4E-05; 4.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 5 | 75596275 | missense variant | A/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 22 | 28734532 | missense variant | C/T | snv | 1.6E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 22906770 | missense variant | T/C | snv | 1.2E-03 | 4.7E-03 | 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 |