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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.240 | 1 | 109066220 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.240 | 1 | 109075001 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 8 | 38414892 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 8 | 38414569 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 7 | 83961537 | missense variant | G/A | snv | 1.2E-03 | 7.6E-04 | 0.700 | 0 | ||||||||
|
1 | 12 | 57012866 | missense variant | T/C;G | snv | 1.6E-04; 8.0E-06 | 0.700 | 0 | |||||||||
|
3 | 0.925 | 3 | 57110230 | missense variant | T/G | snv | 8.9E-04 | 6.6E-04 | 0.700 | 0 | |||||||
|
1 | 3 | 57106133 | missense variant | G/A | snv | 1.6E-04 | 1.3E-04 | 0.700 | 0 | ||||||||
|
1 | 4 | 103719165 | missense variant | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
7 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 3 | 57106004 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 4 | 67753986 | missense variant | A/C | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 12 | 37253847 | intergenic variant | G/C;T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 8 | 38424624 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 8 | 38414840 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 8 | 38421840 | frameshift variant | AG/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.040 | 12 | 57013359 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 8 | 38429744 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | X | 8539744 | stop gained | G/A | snv | 0.700 | 0 |